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GTR Home > Laboratories > Asper Biogene

Asper Biogene

GTR Lab ID: 320156, Last updated:2022-01-17
Annual Review past due read more

Personnel

  • Director: Kairit Joost, PhD, MD, Lab Director
    Phone: +372 7307 295
    Fax: +372 7307 298
    Email: info@asperbio.com
  • Kaie Jaakson, MSc, Quality Manager
  • Siim Sõber, PhD, Scientific Director

Conditions and tests

  • 11p partial monosomy syndrome1 test
  • 2-aminoadipic 2-oxoadipic aciduria1 test
  • 2-hydroxyglutaric aciduria1 test
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
  • 3-Methylglutaconic aciduria type 25 tests
  • 3-Methylglutaconic aciduria type 31 test
  • 3-methylglutaconic aciduria type 81 test
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome3 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
  • 46,XY sex reversal 22 tests
  • Aarskog syndrome1 test
  • Abetalipoproteinaemia1 test
  • ABri amyloidosis1 test
  • Achondrogenesis type II2 tests
  • Achondrogenesis, type IA1 test
  • Achondrogenesis, type IB2 tests
  • Achondroplasia3 tests
  • Achromatopsia 23 tests
  • Achromatopsia 33 tests
  • Achromatopsia 43 tests
  • Achromatopsia 61 test
  • Achromatopsia 72 tests
  • Acral peeling skin syndrome2 tests
  • Acrocallosal syndrome3 tests
  • Acrocapitofemoral dysplasia1 test
  • Acrocephalosyndactyly type I1 test
  • Acrokeratosis verruciformis of Hopf1 test
  • Acromesomelic dysplasia 1, Maroteaux type1 test
  • Acromicric dysplasia1 test
  • Actin accumulation myopathy1 test
  • Action myoclonus-renal failure syndrome1 test
  • Aculeiform cataract2 tests
  • Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome1 test
  • Acute intermittent porphyria1 test
  • Acute lymphoid leukemia2 tests
  • Acute myeloid leukemia1 test
  • ADan amyloidosis1 test
  • Adenylosuccinate lyase deficiency1 test
  • Adrenocortical carcinoma, hereditary2 tests
  • Adrenoleukodystrophy1 test
  • Adult hypophosphatasia1 test
  • Adult neuronal ceroid lipofuscinosis1 test
  • Adult polyglucosan body disease2 tests
  • Adult-onset autosomal dominant demyelinating leukodystrophy1 test
  • Adult-onset foveomacular vitelliform dystrophy1 test
  • Advanced sleep phase syndrome 21 test
  • Afibrinogenemia1 test
  • Age related macular degeneration 41 test
  • Age related macular degeneration 61 test
  • Agenesis of the corpus callosum with peripheral neuropathy1 test
  • Aicardi-Goutieres syndrome 11 test
  • Aicardi-Goutieres syndrome 22 tests
  • Aicardi-Goutieres syndrome 41 test
  • Aicardi-Goutieres syndrome 51 test
  • Aicardi-Goutieres syndrome 62 tests
  • AIP-Related Familial Isolated Pituitary Adenomas1 test
  • Alacrima, achalasia, and intellectual disability syndrome1 test
  • Alagille syndrome due to a JAG1 point mutation2 tests
  • Alagille syndrome due to a NOTCH2 point mutation4 tests
  • Alazami-Yuan syndrome1 test
  • Albright hereditary osteodystrophy1 test
  • Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
  • Alexander disease1 test
  • ALG1-congenital disorder of glycosylation1 test
  • ALG11-congenital disorder of glycosylation1 test
  • ALG12-congenital disorder of glycosylation1 test
  • ALG2-congenital disorder of glycosylation2 tests
  • ALG3-congenital disorder of glycosylation2 tests
  • ALG6-congenital disorder of glycosylation 1C1 test
  • ALG8 congenital disorder of glycosylation2 tests
  • ALG9 congenital disorder of glycosylation1 test
  • Allan-Herndon-Dudley syndrome2 tests
  • Alopecia universalis congenita1 test
  • Alpers encephalopathy1 test
  • alpha Thalassemia1 test
  • Alpha-1-antitrypsin deficiency1 test
  • Alpha-N-acetylgalactosaminidase deficiency type 11 test
  • Alpha-N-acetylgalactosaminidase deficiency type 21 test
  • Alstrom syndrome3 tests
  • Alternating hemiplegia of childhood1 test
  • Alternating hemiplegia of childhood 12 tests
  • Alternating hemiplegia of childhood 24 tests
  • Alveolar capillary dysplasia with pulmonary venous misalignment1 test
  • Alzheimer disease1 test
  • Alzheimer disease 21 test
  • Alzheimer disease 41 test
  • Alzheimer disease 91 test
  • Amaurosis-hypertrichosis syndrome2 tests
  • Amelocerebrohypohidrotic syndrome1 test
  • Amelogenesis imperfecta type 1A1 test
  • Aminoacylase 1 deficiency1 test
  • Aminoglycoside-induced deafness1 test
  • Amish lethal microcephaly2 tests
  • Amyloidogenic transthyretin amyloidosis2 tests
  • Amyotrophic lateral sclerosis type 12 tests
  • Amyotrophic lateral sclerosis type 101 test
  • Amyotrophic lateral sclerosis type 112 tests
  • Amyotrophic lateral sclerosis type 121 test
  • Amyotrophic lateral sclerosis type 152 tests
  • Amyotrophic lateral sclerosis type 162 tests
  • Amyotrophic lateral sclerosis type 181 test
  • Amyotrophic lateral sclerosis type 191 test
  • Amyotrophic lateral sclerosis type 2, juvenile1 test
  • Amyotrophic lateral sclerosis type 212 tests
  • Amyotrophic lateral sclerosis type 222 tests
  • Amyotrophic lateral sclerosis type 42 tests
  • Amyotrophic lateral sclerosis type 52 tests
  • Amyotrophic lateral sclerosis type 62 tests
  • Amyotrophic lateral sclerosis type 81 test
  • Amyotrophic lateral sclerosis type 91 test
  • Amyotrophic lateral sclerosis, susceptibility to, 241 test
  • Anauxetic dysplasia 11 test
  • Andersen Tawil syndrome3 tests
  • Androgen resistance syndrome2 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
  • Aneurysm-osteoarthritis syndrome2 tests
  • Angelman syndrome2 tests
  • Angelman syndrome-like1 test
  • Angiokeratoma corporis diffusum1 test
  • Aniridia 15 tests
  • ANKRD1-related dilated cardiomyopathy2 tests
  • Annular epidermolytic ichthyosis3 tests
  • Anophthalmia-microphthalmia syndrome1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome4 tests
  • Anterior segment anomalies with or without cataract2 tests
  • Anterior segment dysgenesis 33 tests
  • Anterior segment dysgenesis 43 tests
  • Anterior segment dysgenesis 63 tests
  • Anterior segment dysgenesis 71 test
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
  • Aortic aneurysm, familial thoracic 41 test
  • Aortic aneurysm, familial thoracic 61 test
  • Aortic aneurysm, familial thoracic 71 test
  • Aortic valve disease 21 test
  • Aplastic anemia1 test
  • Apparent mineralocorticoid excess1 test
  • Arginase deficiency1 test
  • Arginine:glycine amidinotransferase deficiency1 test
  • Argininosuccinate lyase deficiency1 test
  • Arrhythmogenic cardiomyopathy with woolly hair and keratoderma3 tests
  • Arrhythmogenic right ventricular dysplasia 12 tests
  • Arrhythmogenic right ventricular dysplasia 103 tests
  • Arrhythmogenic right ventricular dysplasia 113 tests
  • Arrhythmogenic right ventricular dysplasia 123 tests
  • Arrhythmogenic right ventricular dysplasia 131 test
  • Arrhythmogenic right ventricular dysplasia 23 tests
  • Arrhythmogenic right ventricular dysplasia 52 tests
  • Arrhythmogenic right ventricular dysplasia 83 tests
  • Arrhythmogenic right ventricular dysplasia 93 tests
  • Arterial tortuosity syndrome1 test
  • Arthrogryposis multiplex congenita 3, myogenic type1 test
  • Arthrogryposis, distal, type 1A1 test
  • Aspartylglucosaminuria1 test
  • Asphyxiating thoracic dystrophy 13 tests
  • Asphyxiating thoracic dystrophy 23 tests
  • Asphyxiating thoracic dystrophy 32 tests
  • Asphyxiating thoracic dystrophy 44 tests
  • Asphyxiating thoracic dystrophy 53 tests
  • Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2 tests
  • Ataxia - oculomotor apraxia type 41 test
  • Ataxia - telangiectasia variant2 tests
  • Ataxia with oculomotor apraxia type 31 test
  • Ataxia-pancytopenia syndrome1 test
  • Ataxia-telangiectasia syndrome2 tests
  • Ataxia-telangiectasia-like disorder3 tests
  • Ateleiotic dwarfism1 test
  • Atelosteogenesis type I1 test
  • Atelosteogenesis type II2 tests
  • Atelosteogenesis type III1 test
  • Atrial fibrillation, familial, 102 tests
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 122 tests
  • Atrial fibrillation, familial, 131 test
  • Atrial fibrillation, familial, 142 tests
  • Atrial fibrillation, familial, 31 test
  • Atrial fibrillation, familial, 41 test
  • Atrial fibrillation, familial, 61 test
  • Atrial fibrillation, familial, 72 tests
  • Atrial fibrillation, familial, 92 tests
  • Atrial septal defect 31 test
  • Atrial septal defect 41 test
  • Atrial septal defect 51 test
  • Atrial septal defect 71 test
  • Atrial standstill 11 test
  • Atrial standstill 21 test
  • Atrichia with papular lesions1 test
  • Atrophia bulborum hereditaria3 tests
  • Atypical Gaucher disease due to saposin C deficiency2 tests
  • Atypical hemolytic-uremic syndrome1 test
  • Atypical hemolytic-uremic syndrome with B factor anomaly1 test
  • Atypical hemolytic-uremic syndrome with I factor anomaly1 test
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
  • Auditory neuropathy1 test
  • Auditory neuropathy, autosomal recessive, 11 test
  • Autism spectrum disorder1 test
  • Autism spectrum disorder - epilepsy - arthrogryposis syndrome1 test
  • Autism, susceptibility to, 51 test
  • Autoimmune disease, multisystem, infantile-onset, 21 test
  • Autoimmune thyroid disease, susceptibility to, 34 tests
  • Autosomal dominant Alport syndrome1 test
  • Autosomal dominant centronuclear myopathy1 test
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy2 tests
  • Autosomal dominant Charcot-Marie-Tooth disease type 2M1 test
  • Autosomal dominant Charcot-Marie-Tooth disease type 2W1 test
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
  • Autosomal dominant congenital benign spinal muscular atrophy1 test
  • Autosomal dominant distal renal tubular acidosis1 test
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
  • Autosomal dominant hypocalcemia 12 tests
  • Autosomal dominant hypocalcemia 21 test
  • Autosomal dominant isolated somatotropin deficiency1 test
  • Autosomal dominant Kenny-Caffey syndrome2 tests
  • Autosomal dominant keratitis1 test
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)2 tests
  • Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 11 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 31 test
  • Autosomal dominant nocturnal frontal lobe epilepsy 41 test
  • Autosomal dominant nonsyndromic hearing loss1 test
  • Autosomal dominant nonsyndromic hearing loss 11 test
  • Autosomal dominant nonsyndromic hearing loss 101 test
  • Autosomal dominant nonsyndromic hearing loss 111 test
  • Autosomal dominant nonsyndromic hearing loss 121 test
  • Autosomal dominant nonsyndromic hearing loss 132 tests
  • Autosomal dominant nonsyndromic hearing loss 151 test
  • Autosomal dominant nonsyndromic hearing loss 171 test
  • Autosomal dominant nonsyndromic hearing loss 201 test
  • Autosomal dominant nonsyndromic hearing loss 221 test
  • Autosomal dominant nonsyndromic hearing loss 232 tests
  • Autosomal dominant nonsyndromic hearing loss 251 test
  • Autosomal dominant nonsyndromic hearing loss 281 test
  • Autosomal dominant nonsyndromic hearing loss 2A1 test
  • Autosomal dominant nonsyndromic hearing loss 2B1 test
  • Autosomal dominant nonsyndromic hearing loss 362 tests
  • Autosomal dominant nonsyndromic hearing loss 3A1 test
  • Autosomal dominant nonsyndromic hearing loss 3B1 test
  • Autosomal dominant nonsyndromic hearing loss 441 test
  • Autosomal dominant nonsyndromic hearing loss 481 test
  • Autosomal dominant nonsyndromic hearing loss 4A1 test
  • Autosomal dominant nonsyndromic hearing loss 4B1 test
  • Autosomal dominant nonsyndromic hearing loss 51 test
  • Autosomal dominant nonsyndromic hearing loss 501 test
  • Autosomal dominant nonsyndromic hearing loss 511 test
  • Autosomal dominant nonsyndromic hearing loss 562 tests
  • Autosomal dominant nonsyndromic hearing loss 61 test
  • Autosomal dominant nonsyndromic hearing loss 641 test
  • Autosomal dominant nonsyndromic hearing loss 91 test
  • Autosomal dominant optic atrophy classic form2 tests
  • Autosomal dominant osteopetrosis 13 tests
  • Autosomal dominant osteopetrosis 22 tests
  • Autosomal dominant Parkinson disease 12 tests
  • Autosomal dominant Parkinson disease 42 tests
  • Autosomal dominant Parkinson disease 82 tests
  • Autosomal dominant pseudohypoaldosteronism type 11 test
  • Autosomal dominant Robinow syndrome 21 test
  • Autosomal dominant sideroblastic anemia1 test
  • Autosomal dominant slowed nerve conduction velocity1 test
  • Autosomal dominant vitreoretinochoroidopathy3 tests
  • Autosomal dominant woolly hair1 test
  • Autosomal recessive Alport syndrome1 test
  • Autosomal recessive ataxia, Beauce type2 tests
  • Autosomal recessive axonal neuropathy with neuromyotonia1 test
  • Autosomal recessive bestrophinopathy2 tests
  • Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency1 test
  • Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
  • Autosomal recessive complex spastic paraplegia type 9B1 test
  • Autosomal recessive congenital ichthyosis 11 test
  • Autosomal recessive congenital ichthyosis 101 test
  • Autosomal recessive congenital ichthyosis 111 test
  • Autosomal recessive congenital ichthyosis 21 test
  • Autosomal recessive congenital ichthyosis 31 test
  • Autosomal recessive congenital ichthyosis 4A1 test
  • Autosomal recessive congenital ichthyosis 4B1 test
  • Autosomal recessive congenital ichthyosis 51 test
  • Autosomal recessive congenital ichthyosis 61 test
  • Autosomal recessive congenital ichthyosis 81 test
  • Autosomal recessive congenital ichthyosis 91 test
  • Autosomal recessive cutis laxa type 2B2 tests
  • Autosomal recessive distal spinal muscular atrophy 21 test
  • Autosomal recessive DOPA responsive dystonia3 tests
  • Autosomal recessive early-onset Parkinson disease 231 test
  • Autosomal recessive early-onset Parkinson disease 61 test
  • Autosomal recessive early-onset Parkinson disease 71 test
  • Autosomal recessive juvenile Parkinson disease 22 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2I2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2K3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2L3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2M4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2N2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2O3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2P2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2Q2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2T4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2U3 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2W1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2X1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2Y1 test
  • Autosomal recessive limb-girdle muscular dystrophy type R181 test
  • Autosomal recessive lower motor neuron disease with childhood onset1 test
  • Autosomal recessive nonsyndromic hearing loss 122 tests
  • Autosomal recessive nonsyndromic hearing loss 153 tests
  • Autosomal recessive nonsyndromic hearing loss 161 test
  • Autosomal recessive nonsyndromic hearing loss 18A1 test
  • Autosomal recessive nonsyndromic hearing loss 1A2 tests
  • Autosomal recessive nonsyndromic hearing loss 1B1 test
  • Autosomal recessive nonsyndromic hearing loss 21 test
  • Autosomal recessive nonsyndromic hearing loss 211 test
  • Autosomal recessive nonsyndromic hearing loss 221 test
  • Autosomal recessive nonsyndromic hearing loss 231 test
  • Autosomal recessive nonsyndromic hearing loss 241 test
  • Autosomal recessive nonsyndromic hearing loss 251 test
  • Autosomal recessive nonsyndromic hearing loss 281 test
  • Autosomal recessive nonsyndromic hearing loss 291 test
  • Autosomal recessive nonsyndromic hearing loss 31 test
  • Autosomal recessive nonsyndromic hearing loss 301 test
  • Autosomal recessive nonsyndromic hearing loss 311 test
  • Autosomal recessive nonsyndromic hearing loss 351 test
  • Autosomal recessive nonsyndromic hearing loss 361 test
  • Autosomal recessive nonsyndromic hearing loss 371 test
  • Autosomal recessive nonsyndromic hearing loss 391 test
  • Autosomal recessive nonsyndromic hearing loss 43 tests
  • Autosomal recessive nonsyndromic hearing loss 421 test
  • Autosomal recessive nonsyndromic hearing loss 482 tests
  • Autosomal recessive nonsyndromic hearing loss 491 test
  • Autosomal recessive nonsyndromic hearing loss 532 tests
  • Autosomal recessive nonsyndromic hearing loss 591 test
  • Autosomal recessive nonsyndromic hearing loss 61 test
  • Autosomal recessive nonsyndromic hearing loss 611 test
  • Autosomal recessive nonsyndromic hearing loss 631 test
  • Autosomal recessive nonsyndromic hearing loss 661 test
  • Autosomal recessive nonsyndromic hearing loss 673 tests
  • Autosomal recessive nonsyndromic hearing loss 71 test
  • Autosomal recessive nonsyndromic hearing loss 701 test
  • Autosomal recessive nonsyndromic hearing loss 741 test
  • Autosomal recessive nonsyndromic hearing loss 773 tests
  • Autosomal recessive nonsyndromic hearing loss 791 test
  • Autosomal recessive nonsyndromic hearing loss 81 test
  • Autosomal recessive nonsyndromic hearing loss 84A1 test
  • Autosomal recessive nonsyndromic hearing loss 892 tests
  • Autosomal recessive nonsyndromic hearing loss 91 test
  • Autosomal recessive nonsyndromic hearing loss 911 test
  • Autosomal recessive omodysplasia1 test
  • Autosomal recessive optic atrophy, OPA7 type2 tests
  • Autosomal recessive osteopetrosis 12 tests
  • Autosomal recessive osteopetrosis 21 test
  • Autosomal recessive osteopetrosis 42 tests
  • Autosomal recessive osteopetrosis 51 test
  • Autosomal recessive osteopetrosis 61 test
  • Autosomal recessive osteopetrosis 71 test
  • Autosomal recessive osteopetrosis 81 test
  • Autosomal recessive Parkinson disease 141 test
  • Autosomal recessive polycystic kidney disease2 tests
  • Autosomal recessive progressive external ophthalmoplegia1 test
  • Autosomal recessive proximal renal tubular acidosis3 tests
  • Autosomal recessive pseudohypoaldosteronism type 11 test
  • Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1 test
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
  • Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1 test
  • Autosomal recessive spastic paraplegia type 761 test
  • Autosomal recessive spinocerebellar ataxia 101 test
  • Autosomal recessive spinocerebellar ataxia 111 test
  • Autosomal recessive spinocerebellar ataxia 131 test
  • Autosomal recessive spinocerebellar ataxia 141 test
  • Autosomal recessive spinocerebellar ataxia 151 test
  • Autosomal recessive spinocerebellar ataxia 161 test
  • Autosomal recessive spinocerebellar ataxia 171 test
  • Autosomal recessive spinocerebellar ataxia 181 test
  • Autosomal recessive spinocerebellar ataxia 21 test
  • Autosomal recessive spinocerebellar ataxia 72 tests
  • Avascular necrosis of femoral head, primary, 11 test
  • Avascular necrosis of femoral head, primary, 21 test
  • Avellino corneal dystrophy2 tests
  • Axenfeld-Rieger syndrome type 11 test
  • Axenfeld-Rieger syndrome type 31 test
  • Axial spondylometaphyseal dysplasia1 test
  • B4GALT1-congenital disorder of glycosylation1 test
  • Bailey-Bloch congenital myopathy2 tests
  • Baller-Gerold syndrome2 tests
  • Bamforth-Lazarus syndrome1 test
  • Band heterotopia of brain1 test
  • BAP1-related tumor predisposition syndrome2 tests
  • Baraitser-Winter syndrome 12 tests
  • Baraitser-winter syndrome 22 tests
  • Bardet-Biedl syndrome 13 tests
  • Bardet-Biedl syndrome 103 tests
  • Bardet-Biedl syndrome 113 tests
  • Bardet-Biedl syndrome 123 tests
  • Bardet-Biedl syndrome 133 tests
  • Bardet-Biedl syndrome 144 tests
  • Bardet-Biedl syndrome 153 tests
  • Bardet-Biedl syndrome 165 tests
  • Bardet-Biedl syndrome 172 tests
  • Bardet-Biedl syndrome 181 test
  • Bardet-Biedl syndrome 191 test
  • Bardet-Biedl syndrome 24 tests
  • Bardet-biedl syndrome 212 tests
  • Bardet-Biedl syndrome 33 tests
  • Bardet-Biedl syndrome 43 tests
  • Bardet-Biedl syndrome 53 tests
  • Bardet-Biedl syndrome 63 tests
  • Bardet-Biedl syndrome 73 tests
  • Bardet-Biedl syndrome 83 tests
  • Bardet-Biedl syndrome 93 tests
  • Bartter disease type 11 test
  • Bartter disease type 21 test
  • Bartter disease type 32 tests
  • Bartter disease type 4a2 tests
  • Bartter disease type 4B2 tests
  • Bartter Syndrome Type 4B, CLCNKA/CLCNKB Digenic1 test
  • Bartter syndrome with hypocalcemia1 test
  • Basal cell carcinoma, susceptibility to, 11 test
  • Basal cell carcinoma, susceptibility to, 73 tests
  • Beare-Stevenson cutis gyrata syndrome1 test
  • Becker muscular dystrophy2 tests
  • Beckwith-Wiedemann syndrome2 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy3 tests
  • BENTA disease1 test
  • Bernard Soulier syndrome1 test
  • beta Thalassemia1 test
  • Beta-D-mannosidosis1 test
  • Beta-thalassemia-X-linked thrombocytopenia syndrome1 test
  • Bethlem myopathy 12 tests
  • Bethlem myopathy 23 tests
  • Bietti crystalline corneoretinal dystrophy2 tests
  • Bilateral frontoparietal polymicrogyria1 test
  • Bilateral parasagittal parieto-occipital polymicrogyria1 test
  • Biotin-responsive basal ganglia disease1 test
  • Biotinidase deficiency1 test
  • Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
  • Bloom syndrome2 tests
  • BNAR syndrome1 test
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency1 test
  • Bone marrow failure syndrome 31 test
  • Bone mineral density quantitative trait locus 12 tests
  • Bone mineral density quantitative trait locus 181 test
  • Bone osteosarcoma2 tests
  • Boomerang dysplasia1 test
  • Borjeson-Forssman-Lehmann syndrome1 test
  • Bosch-Boonstra-Schaaf optic atrophy syndrome2 tests
  • Bothnia retinal dystrophy1 test
  • Brachydactyly type A11 test
  • Brachydactyly-arterial hypertension syndrome2 tests
  • Brachyrachia (short spine dysplasia)1 test
  • Bradyopsia1 test
  • Brain small vessel disease 1 with or without ocular anomalies2 tests
  • Brain-lung-thyroid syndrome3 tests
  • Branchiootic syndrome 11 test
  • Branchiootic syndrome 32 tests
  • Branchiootorenal syndrome 11 test
  • Branchiootorenal syndrome 22 tests
  • Breast cancer, early-onset1 test
  • Breast cancer, susceptibility to1 test
  • Breast-ovarian cancer, familial, susceptibility to, 14 tests
  • Breast-ovarian cancer, familial, susceptibility to, 24 tests
  • Breast-ovarian cancer, familial, susceptibility to, 31 test
  • Breast-ovarian cancer, familial, susceptibility to, 41 test
  • Brittle cornea syndrome 13 tests
  • Brittle cornea syndrome 23 tests
  • Bronchiectasis with or without elevated sweat chloride 11 test
  • Bronchiectasis with or without elevated sweat chloride 21 test
  • Bronchiectasis with or without elevated sweat chloride 31 test
  • Brown-Vialetto-van Laere syndrome 21 test
  • Bruck syndrome 12 tests
  • Bruck syndrome 22 tests
  • Brugada syndrome1 test
  • Brugada syndrome 13 tests
  • Brugada syndrome 22 tests
  • Brugada syndrome 34 tests
  • Brugada syndrome 43 tests
  • Brugada syndrome 52 tests
  • Brugada syndrome 62 tests
  • Brugada syndrome 72 tests
  • Brugada syndrome 82 tests
  • Brugada syndrome 91 test
  • Bullous ichthyosiform erythroderma3 tests
  • C syndrome1 test
  • Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
  • Camptomelic dysplasia4 tests
  • Cantu syndrome, KCNJ8 related1 test
  • Capillary malformation-arteriovenous malformation 11 test
  • Capillary malformation-arteriovenous malformation 21 test
  • CARASIL syndrome1 test
  • Carcinoid tumor of intestine1 test
  • Carcinoma of colon1 test
  • Carcinoma of pancreas1 test
  • Cardiac arrhythmia, ankyrin-B-related2 tests
  • Cardiac valvular dysplasia, X-linked3 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 41 test
  • Cardiofaciocutaneous syndrome 41 test
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis2 tests
  • Cardiomyopathy, familial restrictive, 11 test
  • Cardiomyopathy, familial restrictive, 32 tests
  • Carney complex, type 11 test
  • Carney-Stratakis syndrome2 tests
  • Carnitine acylcarnitine translocase deficiency2 tests
  • Carnitine palmitoyl transferase 1A deficiency1 test
  • Carnitine palmitoyl transferase II deficiency, myopathic form2 tests
  • Carnitine palmitoyl transferase II deficiency, neonatal form2 tests
  • Carnitine palmitoyl transferase II deficiency, severe infantile form2 tests
  • Cataract 1 multiple types1 test
  • Cataract 10 multiple types2 tests
  • Cataract 11 multiple types1 test
  • Cataract 11 with microphthalmia and neurodevelopmental abnormalities1 test
  • Cataract 12 multiple types1 test
  • Cataract 13 with adult I phenotype1 test
  • Cataract 14 multiple types2 tests
  • Cataract 15 multiple types2 tests
  • Cataract 16 multiple types2 tests
  • Cataract 17 multiple types2 tests
  • Cataract 182 tests
  • Cataract 19 multiple types2 tests
  • Cataract 20 multiple types2 tests
  • Cataract 21 multiple types1 test
  • Cataract 22 multiple types2 tests
  • Cataract 232 tests
  • Cataract 3 multiple types2 tests
  • Cataract 302 tests
  • Cataract 31 multiple types2 tests
  • Cataract 331 test
  • Cataract 362 tests
  • Cataract 383 tests
  • Cataract 39 multiple types2 tests
  • Cataract 402 tests
  • Cataract 411 test
  • Cataract 431 test
  • Cataract 441 test
  • Cataract 451 test
  • Cataract 5 multiple types1 test
  • Cataract 6 multiple types2 tests
  • Cataract 9 multiple types2 tests
  • Cataract with late-onset corneal dystrophy1 test
  • Cataract, polymorphic and lamellar1 test
  • Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome1 test
  • Catecholaminergic polymorphic ventricular tachycardia 13 tests
  • Catecholaminergic polymorphic ventricular tachycardia 23 tests
  • Catecholaminergic polymorphic ventricular tachycardia 42 tests
  • Catecholaminergic polymorphic ventricular tachycardia 51 test
  • Cayman type cerebellar ataxia1 test
  • CBL-related disorder1 test
  • CEDNIK syndrome3 tests
  • Cenani-Lenz syndactyly syndrome1 test
  • Central core myopathy3 tests
  • Cerebellar ataxia type 91 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 12 tests
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 31 test
  • Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41 test
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome2 tests
  • Cerebellar ataxia-hypogonadism syndrome1 test
  • Cerebellar atrophy, developmental delay, and seizures1 test
  • Cerebral amyloid angiopathy, APP-related1 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21 test
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Cerebral creatine deficiency syndrome1 test
  • Cerebral folate transport deficiency2 tests
  • Cerebrooculofacioskeletal syndrome 12 tests
  • Cerebrooculofacioskeletal syndrome 21 test
  • Cernunnos-XLF deficiency3 tests
  • Ceroid lipofuscinosis, neuronal, 4 (Kufs type)2 tests
  • Ceroid lipofuscinosis, neuronal, 6A2 tests
  • CFHR5 deficiency1 test
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
  • Charcot-Marie-Tooth disease1 test
  • Charcot-Marie-Tooth disease axonal type 2C1 test
  • Charcot-Marie-Tooth disease axonal type 2CC1 test
  • Charcot-Marie-Tooth disease axonal type 2F1 test
  • Charcot-Marie-Tooth disease axonal type 2K1 test
  • Charcot-Marie-Tooth disease axonal type 2L1 test
  • Charcot-Marie-Tooth disease axonal type 2N1 test
  • Charcot-Marie-Tooth disease axonal type 2O1 test
  • Charcot-Marie-Tooth disease axonal type 2P1 test
  • Charcot-Marie-Tooth disease axonal type 2Q2 tests
  • Charcot-Marie-Tooth disease axonal type 2S1 test
  • Charcot-Marie-Tooth disease axonal type 2T2 tests
  • Charcot-Marie-Tooth disease axonal type 2U1 test
  • Charcot-Marie-Tooth disease axonal type 2V1 test
  • Charcot-Marie-Tooth disease axonal type 2X1 test
  • Charcot-Marie-Tooth disease axonal type 2Z1 test
  • Charcot-Marie-Tooth disease dominant intermediate B2 tests
  • Charcot-Marie-Tooth disease dominant intermediate C1 test
  • Charcot-Marie-Tooth disease dominant intermediate D1 test
  • Charcot-Marie-Tooth disease dominant intermediate E1 test
  • Charcot-Marie-Tooth disease dominant intermediate F1 test
  • Charcot-Marie-Tooth disease recessive intermediate A1 test
  • Charcot-Marie-Tooth disease recessive intermediate B1 test
  • Charcot-Marie-Tooth disease recessive intermediate C1 test
  • Charcot-Marie-Tooth disease recessive intermediate D1 test
  • Charcot-Marie-Tooth disease type 1B1 test
  • Charcot-Marie-Tooth disease type 1C1 test
  • Charcot-Marie-Tooth disease type 1D1 test
  • Charcot-Marie-Tooth disease type 21 test
  • Charcot-Marie-Tooth disease type 2A11 test
  • Charcot-Marie-Tooth disease type 2A21 test
  • Charcot-Marie-Tooth disease type 2B1 test
  • Charcot-Marie-Tooth disease type 2B14 tests
  • Charcot-Marie-Tooth disease type 2B21 test
  • Charcot-Marie-Tooth disease type 2D2 tests
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 2R1 test
  • Charcot-Marie-Tooth disease type 2Y3 tests
  • Charcot-Marie-Tooth disease type 41 test
  • Charcot-Marie-Tooth disease type 4A1 test
  • Charcot-Marie-Tooth disease type 4B11 test
  • Charcot-Marie-Tooth disease type 4B22 tests
  • Charcot-Marie-Tooth disease type 4C1 test
  • Charcot-Marie-Tooth disease type 4D1 test
  • Charcot-Marie-Tooth disease type 4F1 test
  • Charcot-Marie-Tooth disease type 4G2 tests
  • Charcot-Marie-Tooth disease type 4H1 test
  • Charcot-Marie-Tooth disease type 4J2 tests
  • Charcot-Marie-Tooth disease type 4K1 test
  • Charcot-Marie-Tooth disease X-linked dominant 11 test
  • Charcot-Marie-Tooth disease X-linked recessive 51 test
  • Charcot-marie-tooth disease, axonal, type 2DD1 test
  • Charcot-Marie-Tooth disease, type IA1 test
  • Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome1 test
  • CHARGE association4 tests
  • Charlevoix-Saguenay spastic ataxia1 test
  • Child syndrome2 tests
  • Childhood apraxia of speech1 test
  • Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1 test
  • Childhood hypophosphatasia1 test
  • Childhood onset GLUT1 deficiency syndrome 23 tests
  • Chitayat syndrome1 test
  • Cholestanol storage disease1 test
  • Chondrodysplasia Blomstrand type1 test
  • Chondrodysplasia punctata 2 X-linked dominant2 tests
  • Choreoathetosis1 test
  • Choroid plexus papilloma2 tests
  • Choroidal dystrophy, central areolar 21 test
  • Choroideremia2 tests
  • Christianson syndrome3 tests
  • Chromosome 15q13.3 microdeletion syndrome1 test
  • Chromosome 1q41-q42 deletion syndrome1 test
  • Chromosome 2q32-q33 deletion syndrome1 test
  • Chudley-McCullough syndrome2 tests
  • Chuvash polycythemia3 tests
  • Chédiak-Higashi syndrome2 tests
  • Ciliary dyskinesia1 test
  • Ciliary dyskinesia, primary, 36, X-linked1 test
  • Ciliary dyskinesia, primary, 372 tests
  • Citrullinemia type I1 test
  • Citrullinemia type II2 tests
  • Citrullinuria1 test
  • CK syndrome2 tests
  • Clark-Baraitser syndrome1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
  • Classic homocystinuria2 tests
  • COACH syndrome 15 tests
  • Cobalamin C disease1 test
  • Cobblestone lissencephaly without muscular or ocular involvement1 test
  • Cockayne syndrome type 21 test
  • Coenzyme Q10 deficiency, primary, 12 tests
  • Coenzyme Q10 deficiency, primary, 31 test
  • Coffin-Siris syndrome1 test
  • COG1 congenital disorder of glycosylation1 test
  • COG4-congenital disorder of glycosylation1 test
  • COG5-congenital disorder of glycosylation1 test
  • COG6-ongenital disorder of glycosylation1 test
  • COG7 congenital disorder of glycosylation1 test
  • COG8-congenital disorder of glycosylation1 test
  • Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1 test
  • Cohen syndrome2 tests
  • Cole-Carpenter syndrome 11 test
  • Cole-Carpenter syndrome 22 tests
  • Coloboma of optic nerve1 test
  • Colobomatous microphthalmia-rhizomelic dysplasia syndrome1 test
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
  • Colorectal cancer2 tests
  • Colorectal cancer, hereditary nonpolyposis, type 25 tests
  • Colorectal cancer, susceptibility to, 101 test
  • Combined deficiency of sialidase AND beta galactosidase1 test
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
  • Combined immunodeficiency due to CD3gamma deficiency1 test
  • Combined immunodeficiency due to DOCK8 deficiency1 test
  • Combined immunodeficiency due to MALT1 deficiency1 test
  • Combined immunodeficiency due to ORAI1 deficiency1 test
  • Combined immunodeficiency due to partial RAG1 deficiency1 test
  • Combined immunodeficiency due to STIM1 deficiency1 test
  • Combined immunodeficiency due to ZAP70 deficiency1 test
  • Combined immunodeficiency with skin granulomas1 test
  • Combined immunodeficiency, X-linked1 test
  • Combined immunodeficiency, X-linked, moderate1 test
  • Combined malonic and methylmalonic acidemia1 test
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
  • Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 22 tests
  • Combined oxidative phosphorylation defect type 111 test
  • Combined oxidative phosphorylation defect type 131 test
  • Combined oxidative phosphorylation defect type 141 test
  • Combined oxidative phosphorylation defect type 171 test
  • Combined oxidative phosphorylation defect type 201 test
  • Combined oxidative phosphorylation defect type 211 test
  • Combined oxidative phosphorylation defect type 231 test
  • Combined oxidative phosphorylation defect type 241 test
  • Combined oxidative phosphorylation defect type 252 tests
  • Combined oxidative phosphorylation defect type 271 test
  • Combined oxidative phosphorylation defect type 301 test
  • Combined oxidative phosphorylation defect type 71 test
  • Combined oxidative phosphorylation defect type 91 test
  • Combined oxidative phosphorylation deficiency 191 test
  • Combined oxidative phosphorylation deficiency 221 test
  • Combined oxidative phosphorylation deficiency 281 test
  • Combined oxidative phosphorylation deficiency 291 test
  • Combined oxidative phosphorylation deficiency 341 test
  • Combined oxidative phosphorylation deficiency 351 test
  • Combined oxidative phosphorylation deficiency 391 test
  • Complement component 3 deficiency1 test
  • Complement component C1s deficiency1 test
  • Complement factor b deficiency1 test
  • Complete androgen insensitivity syndrome1 test
  • Complex cortical dysplasia with other brain malformations 13 tests
  • Complex cortical dysplasia with other brain malformations 23 tests
  • Complex cortical dysplasia with other brain malformations 32 tests
  • Complex cortical dysplasia with other brain malformations 42 tests
  • Complex cortical dysplasia with other brain malformations 52 tests
  • Complex cortical dysplasia with other brain malformations 61 test
  • Complex cortical dysplasia with other brain malformations 73 tests
  • Compton-North congenital myopathy1 test
  • Cone dystrophy 31 test
  • Cone dystrophy 43 tests
  • Cone dystrophy with supernormal rod response1 test
  • Cone monochromatism1 test
  • Cone-rod dystrophy 102 tests
  • Cone-rod dystrophy 112 tests
  • Cone-rod dystrophy 122 tests
  • Cone-rod dystrophy 133 tests
  • Cone-rod dystrophy 152 tests
  • Cone-rod dystrophy 163 tests
  • Cone-rod dystrophy 182 tests
  • Cone-rod dystrophy 192 tests
  • Cone-rod dystrophy 22 tests
  • Cone-rod dystrophy 203 tests
  • Cone-rod dystrophy 33 tests
  • Cone-rod dystrophy 52 tests
  • Cone-rod dystrophy 62 tests
  • Cone-rod dystrophy 72 tests
  • Cone-rod dystrophy 92 tests
  • Cone-rod synaptic disorder, congenital nonprogressive3 tests
  • Cone/cone-rod dystrophy2 tests
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
  • Congenital adrenal hypoplasia, X-linked2 tests
  • Congenital afibrinogenemia1 test
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome2 tests
  • Congenital defect of folate absorption1 test
  • Congenital diarrhea 5 with tufting enteropathy1 test
  • Congenital disorder of deglycosylation1 test
  • Congenital disorder of glycosylation1 test
  • Congenital disorder of glycosylation type 1E2 tests
  • Congenital disorder of glycosylation type Ir1 test
  • Congenital disorder of glycosylation, type ICC2 tests
  • Congenital disorder of glycosylation, type IIq1 test
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital fibrosis of extraocular muscles type 12 tests
  • Congenital heart defects, multiple types, 61 test
  • Congenital hereditary endothelial dystrophy of cornea2 tests
  • Congenital hyperammonemia, type I1 test
  • Congenital hypotrichosis with juvenile macular dystrophy2 tests
  • Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
  • Congenital isolated adrenocorticotropic hormone deficiency1 test
  • Congenital long QT syndrome2 tests
  • Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome2 tests
  • Congenital multicore myopathy with external ophthalmoplegia3 tests
  • Congenital muscular dystrophy due to integrin alpha-7 deficiency1 test
  • Congenital muscular dystrophy due to LMNA mutation4 tests
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy2 tests
  • Congenital muscular hypertrophy-cerebral syndrome3 tests
  • Congenital myasthenic syndrome 102 tests
  • Congenital myasthenic syndrome 111 test
  • Congenital myasthenic syndrome 121 test
  • Congenital myasthenic syndrome 131 test
  • Congenital myasthenic syndrome 142 tests
  • Congenital myasthenic syndrome 151 test
  • Congenital myasthenic syndrome 162 tests
  • Congenital myasthenic syndrome 171 test
  • Congenital myasthenic syndrome 183 tests
  • Congenital myasthenic syndrome 201 test
  • Congenital myasthenic syndrome 2A1 test
  • Congenital myasthenic syndrome 2C1 test
  • Congenital myasthenic syndrome 3A1 test
  • Congenital myasthenic syndrome 3B1 test
  • Congenital myasthenic syndrome 3C1 test
  • Congenital myasthenic syndrome 4A1 test
  • Congenital myasthenic syndrome 4B1 test
  • Congenital myasthenic syndrome 4C1 test
  • Congenital myasthenic syndrome 51 test
  • Congenital myasthenic syndrome 71 test
  • Congenital myasthenic syndrome 81 test
  • Congenital myasthenic syndrome 91 test
  • Congenital myopathy with fiber type disproportion3 tests
  • Congenital myopathy with internal nuclei and atypical cores1 test
  • Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome2 tests
  • Congenital neutropenia-myelofibrosis-nephromegaly syndrome1 test
  • Congenital nongoitrous hypothryoidism 63 tests
  • Congenital plasminogen activator inhibitor type 1 deficiency1 test
  • Congenital pontocerebellar hypoplasia type 11 test
  • Congenital primary aphakia1 test
  • Congenital prothrombin deficiency2 tests
  • Congenital reticular ichthyosiform erythroderma2 tests
  • Congenital secretory sodium diarrhea 81 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Congenital short bowel syndrome, X-linked1 test
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome2 tests
  • Congenital stationary night blindness 1A2 tests
  • Congenital stationary night blindness 1B2 tests
  • Congenital stationary night blindness 1C2 tests
  • Congenital stationary night blindness 1D1 test
  • Congenital stationary night blindness 1E1 test
  • Congenital stationary night blindness 1G1 test
  • Congenital stationary night blindness 2A2 tests
  • Congenital stationary night blindness autosomal dominant 12 tests
  • Congenital stationary night blindness autosomal dominant 22 tests
  • Congenital stationary night blindness autosomal dominant 32 tests
  • Congenital stromal corneal dystrophy2 tests
  • Conotruncal heart malformations3 tests
  • Constitutional megaloblastic anemia with severe neurologic disease1 test
  • Corneal dystrophy, Fuchs endothelial, 13 tests
  • Corneal dystrophy, Fuchs endothelial, 31 test
  • Corneal dystrophy, Fuchs endothelial, 41 test
  • Corneal dystrophy, Fuchs endothelial, 61 test
  • Corneal dystrophy, lattice type 3A2 tests
  • Corneal dystrophy-perceptive deafness syndrome2 tests
  • Cornelia de Lange syndrome 11 test
  • Cornelia de Lange syndrome 32 tests
  • Cornelia de Lange syndrome 42 tests
  • Cornelia de Lange syndrome 53 tests
  • Corpus callosum agenesis-abnormal genitalia syndrome1 test
  • Cortical dysplasia, complex, with other brain malformations 101 test
  • Cortical dysplasia, complex, with other brain malformations 92 tests
  • Cortical dysplasia-focal epilepsy syndrome1 test
  • Costello syndrome1 test
  • Cowden syndrome2 tests
  • Cowden syndrome 11 test
  • Cowden syndrome 32 tests
  • Cowden syndrome 51 test
  • Cowden syndrome 61 test
  • Cowden syndrome 72 tests
  • Cranioectodermal dysplasia 12 tests
  • Cranioectodermal dysplasia 22 tests
  • Cranioectodermal dysplasia 31 test
  • Cranioectodermal dysplasia 42 tests
  • Craniofacial anomalies and anterior segment dysgenesis syndrome2 tests
  • Craniofrontonasal syndrome1 test
  • Craniosynostosis 21 test
  • Craniosynostosis 5, susceptibility to1 test
  • Craniosynostosis 71 test
  • Craniosynostosis and dental anomalies1 test
  • Creatine transporter deficiency1 test
  • Crouzon syndrome1 test
  • Crouzon syndrome-acanthosis nigricans syndrome2 tests
  • Cryptophthalmos syndrome1 test
  • Cryptorchidism1 test
  • Curry-Hall syndrome3 tests
  • Cutaneous porphyria1 test
  • Cutis laxa with osteodystrophy4 tests
  • Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies2 tests
  • Cutis laxa, autosomal dominant 12 tests
  • Cutis laxa, autosomal dominant 22 tests
  • Cutis laxa, autosomal dominant 32 tests
  • Cutis laxa, autosomal recessive, type 1A2 tests
  • Cutis laxa, autosomal recessive, type 1B2 tests
  • Cutis laxa, X-linked2 tests
  • Cyclical neutropenia1 test
  • Cystic fibrosis5 tests
  • Cystic leukoencephalopathy without megalencephaly1 test
  • Cytochrome-c oxidase deficiency disease1 test
  • Czech dysplasia, metatarsal type1 test
  • D-2-hydroxyglutaric aciduria 11 test
  • Danon disease4 tests
  • de Barsy syndrome1 test
  • DE SANCTIS-CACCHIONE SYNDROME1 test
  • Deafness dystonia syndrome2 tests
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 12 tests
  • Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
  • Deafness-lymphedema-leukemia syndrome1 test
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase2 tests
  • Deficiency of alpha-mannosidase3 tests
  • Deficiency of butyryl-CoA dehydrogenase2 tests
  • Deficiency of ferroxidase1 test
  • Deficiency of galactokinase2 tests
  • Deficiency of hyaluronoglucosaminidase2 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase2 tests
  • Deficiency of iodide peroxidase4 tests
  • Deficiency of malonyl-CoA decarboxylase1 test
  • Deficiency of phosphoserine phosphatase2 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Denticles1 test
  • Dentinogenesis imperfecta type 21 test
  • Dentinogenesis imperfecta type 31 test
  • Dermatitis, atopic, 2, susceptibility to1 test
  • Dermatopathia pigmentosa reticularis1 test
  • Desbuquois dysplasia 13 tests
  • Desbuquois dysplasia 21 test
  • Desmin-related myofibrillar myopathy2 tests
  • Desmoid disease, hereditary1 test
  • Desmosterolosis2 tests
  • Developmental and epileptic encephalopathy 941 test
  • Developmental and epileptic encephalopathy, 12 tests
  • Developmental and epileptic encephalopathy, 112 tests
  • Developmental and epileptic encephalopathy, 121 test
  • Developmental and epileptic encephalopathy, 131 test
  • Developmental and epileptic encephalopathy, 141 test
  • Developmental and epileptic encephalopathy, 151 test
  • Developmental and epileptic encephalopathy, 161 test
  • Developmental and epileptic encephalopathy, 172 tests
  • Developmental and epileptic encephalopathy, 181 test
  • Developmental and epileptic encephalopathy, 191 test
  • Developmental and epileptic encephalopathy, 21 test
  • Developmental and epileptic encephalopathy, 211 test
  • Developmental and epileptic encephalopathy, 231 test
  • Developmental and epileptic encephalopathy, 241 test
  • Developmental and epileptic encephalopathy, 251 test
  • Developmental and epileptic encephalopathy, 261 test
  • Developmental and epileptic encephalopathy, 272 tests
  • Developmental and epileptic encephalopathy, 281 test
  • Developmental and epileptic encephalopathy, 291 test
  • Developmental and epileptic encephalopathy, 301 test
  • Developmental and epileptic encephalopathy, 311 test
  • Developmental and epileptic encephalopathy, 321 test
  • Developmental and epileptic encephalopathy, 331 test
  • Developmental and epileptic encephalopathy, 341 test
  • Developmental and epileptic encephalopathy, 351 test
  • Developmental and epileptic encephalopathy, 361 test
  • Developmental and epileptic encephalopathy, 371 test
  • Developmental and epileptic encephalopathy, 41 test
  • Developmental and epileptic encephalopathy, 411 test
  • Developmental and epileptic encephalopathy, 421 test
  • Developmental and epileptic encephalopathy, 442 tests
  • Developmental and epileptic encephalopathy, 451 test
  • Developmental and epileptic encephalopathy, 461 test
  • Developmental and epileptic encephalopathy, 471 test
  • Developmental and epileptic encephalopathy, 481 test
  • Developmental and epileptic encephalopathy, 491 test
  • Developmental and epileptic encephalopathy, 51 test
  • Developmental and epileptic encephalopathy, 511 test
  • Developmental and epileptic encephalopathy, 532 tests
  • Developmental and epileptic encephalopathy, 541 test
  • Developmental and epileptic encephalopathy, 551 test
  • Developmental and epileptic encephalopathy, 571 test
  • Developmental and epileptic encephalopathy, 591 test
  • Developmental and epileptic encephalopathy, 61 test
  • Developmental and epileptic encephalopathy, 601 test
  • Developmental and epileptic encephalopathy, 611 test
  • Developmental and epileptic encephalopathy, 621 test
  • Developmental and epileptic encephalopathy, 651 test
  • Developmental and epileptic encephalopathy, 681 test
  • Developmental and epileptic encephalopathy, 691 test
  • Developmental and epileptic encephalopathy, 71 test
  • Developmental and epileptic encephalopathy, 701 test
  • Developmental and epileptic encephalopathy, 721 test
  • Developmental and epileptic encephalopathy, 751 test
  • Developmental and epileptic encephalopathy, 761 test
  • Developmental and epileptic encephalopathy, 771 test
  • Developmental and epileptic encephalopathy, 81 test
  • Developmental and epileptic encephalopathy, 801 test
  • Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
  • Developmental and epileptic encephalopathy, 91 test
  • Developmental delay and seizures with or without movement abnormalities1 test
  • Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
  • Developmental malformations-deafness-dystonia syndrome2 tests
  • Diabetes mellitus type 12 tests
  • Diabetes mellitus, ketosis-prone1 test
  • Diabetes mellitus, permanent neonatal 21 test
  • Diabetes mellitus, permanent neonatal 31 test
  • Diabetes mellitus, transient neonatal, 11 test
  • Diabetes mellitus, transient neonatal, 22 tests
  • Diabetes mellitus, transient neonatal, 32 tests
  • Dias-Logan syndrome1 test
  • Diastrophic dysplasia2 tests
  • DICER1 syndrome1 test
  • Diencephalic-mesencephalic junction dysplasia syndrome 13 tests
  • Diencephalic-mesencephalic junction dysplasia syndrome 23 tests
  • Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
  • Diffuse nonepidermolytic palmoplantar keratoderma3 tests
  • DiGeorge syndrome2 tests
  • Dilated cardiomyopathy 1A6 tests
  • Dilated cardiomyopathy 1AA2 tests
  • Dilated cardiomyopathy 1BB3 tests
  • Dilated cardiomyopathy 1C4 tests
  • Dilated cardiomyopathy 1CC2 tests
  • Dilated cardiomyopathy 1D2 tests
  • Dilated cardiomyopathy 1DD1 test
  • Dilated cardiomyopathy 1E2 tests
  • Dilated cardiomyopathy 1EE2 tests
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G5 tests
  • Dilated cardiomyopathy 1HH2 tests
  • Dilated cardiomyopathy 1I5 tests
  • Dilated cardiomyopathy 1II3 tests
  • Dilated cardiomyopathy 1J1 test
  • Dilated cardiomyopathy 1JJ1 test
  • Dilated cardiomyopathy 1KK1 test
  • Dilated cardiomyopathy 1L2 tests
  • Dilated cardiomyopathy 1M2 tests
  • Dilated cardiomyopathy 1NN2 tests
  • Dilated cardiomyopathy 1O2 tests
  • Dilated cardiomyopathy 1P4 tests
  • Dilated cardiomyopathy 1R2 tests
  • Dilated cardiomyopathy 1S3 tests
  • Dilated cardiomyopathy 1T1 test
  • Dilated cardiomyopathy 1W3 tests
  • Dilated cardiomyopathy 1X2 tests
  • Dilated cardiomyopathy 1Y2 tests
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy 2B1 test
  • Dilated cardiomyopathy 3B3 tests
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome2 tests
  • Distal arthrogryposis type 2B11 test
  • Distal myopathy1 test
  • Distal myopathy with anterior tibial onset2 tests
  • Distal myopathy with posterior leg and anterior hand involvement2 tests
  • Distal myopathy, Tateyama type3 tests
  • DK1-congenital disorder of glycosylation1 test
  • DNA ligase IV deficiency1 test
  • Dominant dystrophic epidermolysis bullosa with absence of skin1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency2 tests
  • Dowling-Degos disease 11 test
  • Doyne honeycomb retinal dystrophy1 test
  • DPAGT1-congenital disorder of glycosylation2 tests
  • DPM3-congenital disorder of glycosylation2 tests
  • Drash syndrome2 tests
  • Duchenne muscular dystrophy2 tests
  • Dyggve-Melchior-Clausen syndrome1 test
  • DYRK1A-related intellectual disability syndrome3 tests
  • Dyskinesia with orofacial involvement, autosomal dominant2 tests
  • Dysplastic gangliocytoma of the cerebellum1 test
  • Dystonia 123 tests
  • Dystonia 162 tests
  • Dystonia 231 test
  • Dystonia 241 test
  • Dystonia 251 test
  • Dystonia 272 tests
  • Dystonia 28, childhood-onset1 test
  • Dystonia 52 tests
  • Dystonia 93 tests
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2 tests
  • Early infantile epileptic encephalopathy with suppression bursts1 test
  • Early-onset generalized limb-onset dystonia1 test
  • Early-onset Lafora body disease1 test
  • Early-onset myopathy with fatal cardiomyopathy3 tests
  • Early-onset Parkinson disease 202 tests
  • Early-onset parkinsonism-intellectual disability syndrome1 test
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome1 test
  • EAST syndrome4 tests
  • Ectodermal dysplasia 7, hair/nail type1 test
  • Ectopia lentis 1, isolated, autosomal dominant3 tests
  • Ectopia lentis 2, isolated, autosomal recessive1 test
  • Ectopia lentis et pupillae1 test
  • EEM syndrome1 test
  • EGFR-related lung cancer1 test
  • Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
  • Ehlers-Danlos syndrome progeroid type1 test
  • Ehlers-Danlos syndrome type 7A1 test
  • Ehlers-danlos syndrome, arthrochalasia type, 23 tests
  • Ehlers-Danlos syndrome, arthrochalasis type2 tests
  • Ehlers-Danlos syndrome, cardiac valvular type3 tests
  • Ehlers-Danlos syndrome, classic type2 tests
  • Ehlers-Danlos syndrome, classic-like, 21 test
  • Ehlers-Danlos syndrome, dermatosparaxis type1 test
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type1 test
  • Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, musculocontractural type 21 test
  • Ehlers-Danlos syndrome, periodontal type 11 test
  • Ehlers-Danlos syndrome, periodontal type 21 test
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type1 test
  • Ehlers-Danlos syndrome, spondylodysplastic type, 21 test
  • Ehlers-Danlos syndrome, type 42 tests
  • Ehlers-Danlos syndrome, type 4 variant1 test
  • Eichsfeld type congenital muscular dystrophy3 tests
  • Eiken syndrome1 test
  • Elevated circulating creatine kinase concentration1 test
  • Ellis-van Creveld syndrome3 tests
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive3 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 21 test
  • Encephalopathy due to GLUT1 deficiency3 tests
  • Encephalopathy due to prosaposin deficiency2 tests
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
  • Encephalopathy, progressive, with amyotrophy and optic atrophy1 test
  • Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1 test
  • Endometrial carcinoma2 tests
  • Enhanced S-cone syndrome2 tests
  • Enlarged vestibular aqueduct syndrome1 test
  • Epidermal nevus1 test
  • Epidermolysis bullosa pruriginosa1 test
  • Epidermolysis bullosa simplex 1A, generalized severe1 test
  • Epidermolysis bullosa simplex 1C, localized1 test
  • Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive1 test
  • Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1 test
  • Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy3 tests
  • Epidermolysis bullosa simplex 5C, with pyloric atresia2 tests
  • Epidermolysis bullosa simplex due to plakophilin deficiency1 test
  • Epidermolysis bullosa simplex with migratory circinate erythema1 test
  • Epidermolysis bullosa simplex with mottled pigmentation1 test
  • Epidermolysis bullosa simplex with nail dystrophy2 tests
  • Epidermolysis bullosa simplex, Koebner type1 test
  • Epidermolysis bullosa simplex, Ogna type2 tests
  • Epilepsy, childhood absence 21 test
  • Epilepsy, childhood absence, susceptibility to, 51 test
  • Epilepsy, childhood absence, susceptibility to, 61 test
  • Epilepsy, early-onset, vitamin B6-dependent1 test
  • Epilepsy, familial adult myoclonic, 51 test
  • Epilepsy, familial focal, with variable foci 21 test
  • Epilepsy, familial focal, with variable foci 41 test
  • Epilepsy, familial temporal lobe, 12 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 101 test
  • Epilepsy, idiopathic generalized, susceptibility to, 123 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 161 test
  • Epilepsy, idiopathic generalized, susceptibility to, 91 test
  • Epilepsy, progressive myoclonic, 2b1 test
  • Epileptic encephalopathy, infantile or early childhood, 11 test
  • Epileptic encephalopathy, infantile or early childhood, 21 test
  • Epileptic encephalopathy, infantile or early childhood, 31 test
  • Epiphyseal dysplasia, multiple, 22 tests
  • Epiphyseal dysplasia, multiple, 33 tests
  • Epiphyseal dysplasia, multiple, 62 tests
  • Epiphyseal dysplasia, multiple, 71 test
  • Episodic ataxia type 13 tests
  • Episodic ataxia type 21 test
  • Episodic ataxia type 51 test
  • Episodic ataxia type 62 tests
  • Episodic ataxia, type 91 test
  • Episodic kinesigenic dyskinesia1 test
  • Episodic kinesigenic dyskinesia 12 tests
  • Epithelial recurrent erosion dystrophy1 test
  • Erythropoietic protoporphyria1 test
  • Estrogen resistance syndrome1 test
  • Ethylmalonic encephalopathy1 test
  • Euthyroid goiter3 tests
  • Exercise-induced hyperinsulinism1 test
  • Exostoses, multiple, type 21 test
  • Exudative vitreoretinopathy 13 tests
  • Exudative vitreoretinopathy 2, X-linked2 tests
  • Exudative vitreoretinopathy 42 tests
  • Exudative vitreoretinopathy 52 tests
  • Exudative vitreoretinopathy 61 test
  • Fabry disease, cardiac variant1 test
  • Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome2 tests
  • Facioscapulohumeral muscular dystrophy 21 test
  • Factor 5 and Factor VIII, combined deficiency of, 21 test
  • Factor H deficiency1 test
  • Factor V and factor VIII, combined deficiency of, type 11 test
  • Factor V deficiency2 tests
  • Factor X deficiency1 test
  • Factor XII deficiency disease1 test
  • Factor XIII, A subunit, deficiency of1 test
  • Familial adenomatous polyposis 13 tests
  • Familial adenomatous polyposis 24 tests
  • Familial adenomatous polyposis 31 test
  • Familial apolipoprotein C-II deficiency2 tests
  • Familial benign flecked retina1 test
  • Familial benign pemphigus1 test
  • Familial cancer of breast2 tests
  • Familial cavitary optic disc anomaly1 test
  • Familial colorectal cancer2 tests
  • Familial cylindromatosis1 test
  • Familial digital arthropathy-brachydactyly1 test
  • Familial dysautonomia1 test
  • Familial dysfibrinogenemia1 test
  • Familial encephalopathy with neuroserpin inclusion bodies1 test
  • Familial expansile osteolysis1 test
  • Familial focal epilepsy with variable foci1 test
  • Familial gestational hyperthyroidism3 tests
  • Familial hypercholesterolemia2 tests
  • Familial hyperinsulinism2 tests
  • Familial hyperthyroidism due to mutations in TSH receptor1 test
  • Familial hypocalciuric hypercalcemia 14 tests
  • Familial hypocalciuric hypercalcemia 21 test
  • Familial hypokalemia-hypomagnesemia2 tests
  • Familial hypoparathyroidism1 test
  • Familial infantile myasthenia1 test
  • Familial isolated deficiency of vitamin E1 test
  • Familial juvenile hyperuricemic nephropathy type 11 test
  • Familial Mediterranean fever1 test
  • Familial medullary thyroid carcinoma1 test
  • Familial meningioma1 test
  • Familial normokalemic periodic paralysis1 test
  • Familial partial lipodystrophy, Dunnigan type3 tests
  • Familial porphyria cutanea tarda2 tests
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial steroid-resistant nephrotic syndrome with sensorineural deafness1 test
  • Familial temporal lobe epilepsy 51 test
  • Familial temporal lobe epilepsy 72 tests
  • Familial thyroid dyshormonogenesis 14 tests
  • Familial type 3 hyperlipoproteinemia1 test
  • Familial type 5 hyperlipoproteinemia2 tests
  • Familial visceral amyloidosis, Ostertag type1 test
  • Fanconi anemia complementation group A2 tests
  • Fanconi anemia complementation group B2 tests
  • Fanconi anemia complementation group C3 tests
  • Fanconi anemia complementation group D11 test
  • Fanconi anemia complementation group D22 tests
  • Fanconi anemia complementation group E2 tests
  • Fanconi anemia complementation group F2 tests
  • Fanconi anemia complementation group G2 tests
  • Fanconi anemia complementation group I2 tests
  • Fanconi anemia complementation group J1 test
  • Fanconi anemia complementation group L2 tests
  • Fanconi anemia complementation group N3 tests
  • Fanconi anemia complementation group O2 tests
  • Fanconi anemia complementation group P2 tests
  • Fanconi anemia complementation group Q1 test
  • Fanconi anemia complementation group U4 tests
  • Fanconi anemia, complementation group M2 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2 tests
  • Fanconi-Bickel syndrome1 test
  • Farber lipogranulomatosis2 tests
  • Fatal familial insomnia1 test
  • Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31 test
  • Febrile seizures, familial, 11 test
  • Febrile seizures, familial, 41 test
  • Female infertility due to zona pellucida defect1 test
  • Fetal akinesia deformation sequence 11 test
  • Fetal akinesia deformation sequence 31 test
  • Fetal akinesia-cerebral and retinal hemorrhage syndrome1 test
  • FG syndrome 22 tests
  • FGFR2-related craniosynostosis1 test
  • Fibrochondrogenesis1 test
  • Fibrochondrogenesis 11 test
  • Fibrochondrogenesis 22 tests
  • Fibrosis of extraocular muscles, congenital, 22 tests
  • Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement3 tests
  • Fibrosis of extraocular muscles, congenital, 3b1 test
  • Finnish congenital nephrotic syndrome1 test
  • Fleck corneal dystrophy2 tests
  • Focal dermal hypoplasia1 test
  • Focal segmental glomerulosclerosis 11 test
  • Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1 test
  • Foveal hypoplasia 11 test
  • Fragile X syndrome2 tests
  • Fragile X-associated tremor/ataxia syndrome2 tests
  • Fraser syndrome 11 test
  • Fraser syndrome 21 test
  • Fraser syndrome 31 test
  • Frasier syndrome2 tests
  • Friedreich ataxia1 test
  • Frontometaphyseal dysplasia1 test
  • Frontometaphyseal dysplasia 12 tests
  • Frontonasal dysplasia with alopecia and genital anomaly1 test
  • Frontotemporal dementia1 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis1 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 33 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 42 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 63 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 72 tests
  • Fructose-biphosphatase deficiency1 test
  • Fucosidosis1 test
  • Fumarase deficiency1 test
  • Galactosylceramide beta-galactosidase deficiency2 tests
  • Galloway-Mowat syndrome 14 tests
  • Galloway-Mowat syndrome 2, X-linked2 tests
  • Galloway-Mowat syndrome 32 tests
  • Galloway-Mowat syndrome 42 tests
  • Galloway-Mowat syndrome 52 tests
  • Galloway-Mowat syndrome 62 tests
  • Galloway-Mowat syndrome 72 tests
  • Galloway-Mowat syndrome 82 tests
  • Gamma-aminobutyric acid transaminase deficiency1 test
  • Gastrointestinal stroma tumor2 tests
  • GATA binding protein 1 related thrombocytopenia with dyserythropoiesis1 test
  • Gaucher disease perinatal lethal2 tests
  • Gaucher disease type I2 tests
  • Gaucher disease type II2 tests
  • Gaucher disease type III2 tests
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome2 tests
  • Geleophysic dysplasia 21 test
  • Generalized dominant dystrophic epidermolysis bullosa1 test
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Generalized epilepsy with febrile seizures plus, type 23 tests
  • Generalized epilepsy with febrile seizures plus, type 71 test
  • Generalized epilepsy with febrile seizures plus, type 91 test
  • Generalized epilepsy-paroxysmal dyskinesia syndrome3 tests
  • Generalized juvenile polyposis/juvenile polyposis coli2 tests
  • Genitopatellar syndrome1 test
  • Genitourinary and/or brain malformation syndrome1 test
  • Geroderma osteodysplastica3 tests
  • Gerstmann-Straussler-Scheinker syndrome2 tests
  • Giant axonal neuropathy 11 test
  • GJB3-Related Erythrokeratodermia Variabilis1 test
  • GJB4-Related Erythrokeratodermia Variabilis1 test
  • Glanzmann thrombasthenia1 test
  • Glaucoma 1, open angle, A2 tests
  • Glaucoma 1, open angle, E1 test
  • Glaucoma 1, open angle, F1 test
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 1, open angle, O1 test
  • Glaucoma 3, primary congenital, D2 tests
  • Glaucoma 3, primary infantile, B1 test
  • Glaucoma 3A1 test
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset1 test
  • Glaucoma, normal tension, susceptibility to1 test
  • Glioma susceptibility 13 tests
  • Globozoospermia1 test
  • Glucose-6-phosphate transport defect2 tests
  • Glutaric acidemia IIa1 test
  • Glutaric acidemia IIb3 tests
  • Glutaric acidemia IIc3 tests
  • Glutaric aciduria, type 14 tests
  • Gluthathione synthetase deficiency1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency2 tests
  • Glycogen storage disease due to muscle and heart glycogen synthase deficiency2 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency2 tests
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency2 tests
  • Glycogen storage disease IIIa1 test
  • Glycogen storage disease IXa11 test
  • Glycogen storage disease IXb1 test
  • Glycogen storage disease IXc1 test
  • Glycogen storage disease IXd2 tests
  • Glycogen storage disease type III2 tests
  • Glycogen storage disease type X2 tests
  • Glycogen storage disease XV2 tests
  • Glycogen storage disease, type II4 tests
  • Glycogen storage disease, type IV3 tests
  • Glycogen storage disease, type V2 tests
  • Glycogen storage disease, type VI1 test
  • Glycogen storage disease, type VII2 tests
  • Glycogen storage disorder due to hepatic glycogen synthase deficiency1 test
  • GM1 gangliosidosis type 22 tests
  • GM1 gangliosidosis type 32 tests
  • GM3 synthase deficiency1 test
  • Gnathodiaphyseal dysplasia3 tests
  • GNE myopathy2 tests
  • Goldberg-Shprintzen megacolon syndrome2 tests
  • Gorlin syndrome2 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11 test
  • Greenberg dysplasia1 test
  • Greig cephalopolysyndactyly syndrome1 test
  • Griscelli syndrome type 22 tests
  • GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
  • Groenouw corneal dystrophy type I2 tests
  • Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome1 test
  • Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1 test
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
  • GTP cyclohydrolase I deficiency1 test
  • H syndrome1 test
  • Haim-Munk syndrome1 test
  • Hajdu-Cheney syndrome4 tests
  • Hartsfield-Bixler-Demyer syndrome1 test
  • Hearing loss, autosomal recessive1 test
  • Hearing loss, autosomal recessive 941 test
  • Hearing loss, X-linked 41 test
  • Hearing loss, X-linked 62 tests
  • Heart defect - tongue hamartoma - polysyndactyly syndrome1 test
  • Heart-hand syndrome, Slovenian type2 tests
  • Helicoid peripapillary chorioretinal degeneration1 test
  • Hemochromatosis type 12 tests
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemolytic anemia due to hexokinase deficiency1 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
  • Hepatic adenomas, familial1 test
  • Hepatocellular carcinoma1 test
  • Hereditary angioedema type 31 test
  • Hereditary antithrombin deficiency2 tests
  • Hereditary coproporphyria1 test
  • Hereditary cryohydrocytosis with reduced stomatin3 tests
  • Hereditary diffuse gastric adenocarcinoma1 test
  • Hereditary diffuse leukoencephalopathy with spheroids2 tests
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary factor XI deficiency disease2 tests
  • Hereditary hyperferritinemia with congenital cataracts3 tests
  • Hereditary intrinsic factor deficiency1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary motor and sensory neuropathy with optic atrophy2 tests
  • Hereditary motor and sensory neuropathy, Okinawa type1 test
  • Hereditary myopathy with lactic acidosis due to ISCU deficiency1 test
  • Hereditary nonpolyposis colon cancer1 test
  • Hereditary pancreatitis1 test
  • Hereditary pheochromocytoma-paraganglioma1 test
  • Hereditary sensory and autonomic neuropathy type 11 test
  • Hereditary sensory neuropathy-deafness-dementia syndrome1 test
  • Hereditary sideroblastic anemia2 tests
  • Hereditary spastic paraplegia 102 tests
  • Hereditary spastic paraplegia 112 tests
  • Hereditary spastic paraplegia 121 test
  • Hereditary spastic paraplegia 131 test
  • Hereditary spastic paraplegia 151 test
  • Hereditary spastic paraplegia 171 test
  • Hereditary spastic paraplegia 181 test
  • Hereditary spastic paraplegia 22 tests
  • Hereditary spastic paraplegia 261 test
  • Hereditary spastic paraplegia 301 test
  • Hereditary spastic paraplegia 311 test
  • Hereditary spastic paraplegia 352 tests
  • Hereditary spastic paraplegia 392 tests
  • Hereditary spastic paraplegia 3A1 test
  • Hereditary spastic paraplegia 42 tests
  • Hereditary spastic paraplegia 431 test
  • Hereditary spastic paraplegia 442 tests
  • Hereditary spastic paraplegia 461 test
  • Hereditary spastic paraplegia 472 tests
  • Hereditary spastic paraplegia 481 test
  • Hereditary spastic paraplegia 491 test
  • Hereditary spastic paraplegia 503 tests
  • Hereditary spastic paraplegia 512 tests
  • Hereditary spastic paraplegia 531 test
  • Hereditary spastic paraplegia 541 test
  • Hereditary spastic paraplegia 561 test
  • Hereditary spastic paraplegia 5A1 test
  • Hereditary spastic paraplegia 61 test
  • Hereditary spastic paraplegia 72 tests
  • Hereditary spastic paraplegia 741 test
  • Hereditary spastic paraplegia 771 test
  • Hereditary spastic paraplegia 81 test
  • Hereditary spastic paraplegia 9A1 test
  • Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX12 tests
  • Hermansky-Pudlak syndrome 12 tests
  • Hermansky-Pudlak syndrome 102 tests
  • Hermansky-Pudlak syndrome 23 tests
  • Hermansky-Pudlak syndrome 32 tests
  • Hermansky-Pudlak syndrome 42 tests
  • Hermansky-Pudlak syndrome 52 tests
  • Hermansky-Pudlak syndrome 62 tests
  • Hermansky-Pudlak syndrome 72 tests
  • Hermansky-Pudlak syndrome 82 tests
  • Hermansky-Pudlak syndrome 92 tests
  • Heterotaxy, visceral, 1, X-linked1 test
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotaxy, visceral, 5, autosomal1 test
  • Heterotopia, periventricular, X-linked dominant4 tests
  • Hidrotic ectodermal dysplasia syndrome1 test
  • Histiocytic medullary reticulosis1 test
  • HNSHA due to aldolase A deficiency2 tests
  • Holoprosencephaly 111 test
  • Holoprosencephaly 13, X-linked1 test
  • Holoprosencephaly 21 test
  • Holoprosencephaly 31 test
  • Holoprosencephaly 41 test
  • Holoprosencephaly 51 test
  • Holoprosencephaly sequence1 test
  • Holt-Oram syndrome1 test
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency2 tests
  • Homocystinuria due to MTHFR deficiency1 test
  • HSD10 mitochondrial disease1 test
  • Hurler syndrome3 tests
  • Hydatidiform mole, recurrent, 31 test
  • Hydrocephalus, congenital, 3, with brain anomalies1 test
  • Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome1 test
  • Hyper-IgM syndrome type 11 test
  • Hyper-IgM syndrome type 31 test
  • Hyperammonemia, type III1 test
  • Hypercoagulability1 test
  • Hyperinsulinemic hypoglycemia, familial, 13 tests
  • Hyperinsulinemic hypoglycemia, familial, 42 tests
  • Hyperinsulinism due to glucokinase deficiency2 tests
  • Hyperinsulinism due to INSR deficiency1 test
  • Hyperinsulinism, UCP2 related1 test
  • Hyperinsulinism-hyperammonemia syndrome2 tests
  • Hyperkalemic periodic paralysis1 test
  • Hyperlipidemia, familial combined, LPL related1 test
  • Hyperlipoproteinemia, type 1D1 test
  • Hyperlipoproteinemia, type I2 tests
  • Hyperlysinemia1 test
  • Hypermanganesemia with dystonia 21 test
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis2 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Hyperparathyroidism 11 test
  • Hyperparathyroidism 2 with jaw tumors1 test
  • Hyperphosphatasia with intellectual disability syndrome 21 test
  • Hyperproinsulinemia1 test
  • Hypertriglyceridemia, familial1 test
  • Hypertrophic cardiomyopathy 17 tests
  • Hypertrophic cardiomyopathy 101 test
  • Hypertrophic cardiomyopathy 113 tests
  • Hypertrophic cardiomyopathy 121 test
  • Hypertrophic cardiomyopathy 132 tests
  • Hypertrophic cardiomyopathy 141 test
  • Hypertrophic cardiomyopathy 152 tests
  • Hypertrophic cardiomyopathy 161 test
  • Hypertrophic cardiomyopathy 171 test
  • Hypertrophic cardiomyopathy 183 tests
  • Hypertrophic cardiomyopathy 191 test
  • Hypertrophic cardiomyopathy 23 tests
  • Hypertrophic cardiomyopathy 201 test
  • Hypertrophic cardiomyopathy 253 tests
  • Hypertrophic cardiomyopathy 262 tests
  • Hypertrophic cardiomyopathy 33 tests
  • Hypertrophic cardiomyopathy 43 tests
  • Hypertrophic cardiomyopathy 62 tests
  • Hypertrophic cardiomyopathy 72 tests
  • Hypertrophic cardiomyopathy 81 test
  • Hypertrophic cardiomyopathy 95 tests
  • Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1 test
  • Hyperuricemic nephropathy, familial juvenile type 41 test
  • Hypochondrogenesis1 test
  • Hypochondroplasia3 tests
  • Hypogonadotropic hypogonadism 1 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 10 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 12 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 13 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 14 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 15 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 16 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 17 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 18 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 20 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 21 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 22 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 24 without anosmia2 tests
  • Hypogonadotropic hypogonadism 3 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 4 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 6 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 9 with or without anosmia2 tests
  • Hypokalemic periodic paralysis, type 11 test
  • Hypokalemic periodic paralysis, type 22 tests
  • Hypomagnesemia, seizures, and intellectual disability 11 test
  • Hypomyelinating leukodystrophy 21 test
  • Hypomyelinating leukodystrophy 31 test
  • Hypomyelinating leukodystrophy 41 test
  • Hypomyelinating leukodystrophy 62 tests
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism3 tests
  • Hypomyelination and Congenital Cataract1 test
  • Hypoparathyroidism, familial isolated, 21 test
  • Hypoparathyroidism-retardation-dysmorphism syndrome1 test
  • Hypophosphatasia1 test
  • Hypopigmentation, organomegaly, and delayed myelination and development2 tests
  • Hypoplastic left heart syndrome 21 test
  • Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome1 test
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration2 tests
  • Hypospadias 2, X-linked1 test
  • Hypothalamic hypothyroidism2 tests
  • Hypothyroidism due to TSH receptor mutations3 tests
  • Hypothyroidism, congenital, nongoitrous, 22 tests
  • Hypothyroidism, congenital, nongoitrous, 53 tests
  • Hypothyroidism, congenital, nongoitrous, 72 tests
  • Hypothyroidism, congenital, nongoitrous, 82 tests
  • Hypothyroidism, congenital, nongoitrous, 91 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 31 test
  • Hypotrichosis 11 test
  • Hypotrichosis 111 test
  • Hypotrichosis 121 test
  • Hypotrichosis 131 test
  • Hypotrichosis 23 tests
  • Hypotrichosis 31 test
  • Hypotrichosis 41 test
  • Hypotrichosis 61 test
  • Hypotrichosis 71 test
  • Hypotrichosis 81 test
  • Ichthyosis bullosa of Siemens1 test
  • Ichthyosis hystrix of Curth-Macklin3 tests
  • Ichthyosis prematurity syndrome1 test
  • Ichthyosis vulgaris1 test
  • Ichthyosis, congenital, autosomal recessive 121 test
  • Ichthyosis, congenital, autosomal recessive 131 test
  • Ichthyosis, hystrix-like, with hearing loss1 test
  • Idiopathic CD4 lymphocytopenia1 test
  • IFAP syndrome with or without BRESHECK syndrome2 tests
  • IMAGe syndrome1 test
  • Imerslund-Grasbeck syndrome1 test
  • Immunodeficiency 1041 test
  • Immunodeficiency 11b with atopic dermatitis1 test
  • Immunodeficiency 15a1 test
  • Immunodeficiency 18, severe combined immunodeficiency variant1 test
  • Immunodeficiency 191 test
  • Immunodeficiency 232 tests
  • Immunodeficiency 251 test
  • Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia2 tests
  • Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia2 tests
  • Immunodeficiency due to CD25 deficiency1 test
  • Immunodeficiency due to defect in CD3-gamma1 test
  • Immunoglobulin-mediated membranoproliferative glomerulonephritis2 tests
  • Inborn mitochondrial myopathy1 test
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia1 test
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
  • Infantile cerebellar-retinal degeneration2 tests
  • Infantile convulsions and choreoathetosis2 tests
  • Infantile cortical hyperostosis3 tests
  • Infantile GM1 gangliosidosis2 tests
  • Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1 test
  • Infantile hypophosphatasia1 test
  • Infantile liver failure syndrome 11 test
  • Infantile nephronophthisis4 tests
  • Infantile onset spinocerebellar ataxia1 test
  • Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
  • Inherited Creutzfeldt-Jakob disease1 test
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
  • Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities3 tests
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1 test
  • Intellectual disability, autosomal dominant 11 test
  • Intellectual disability, autosomal dominant 132 tests
  • Intellectual disability, autosomal dominant 201 test
  • Intellectual disability, autosomal dominant 341 test
  • Intellectual disability, autosomal dominant 51 test
  • Intellectual disability, autosomal dominant 511 test
  • Intellectual disability, autosomal dominant 61 test
  • Intellectual disability, autosomal dominant 82 tests
  • Intellectual disability, autosomal dominant 91 test
  • Intellectual disability, autosomal recessive 131 test
  • Intellectual disability, autosomal recessive 31 test
  • Intellectual disability, autosomal recessive 571 test
  • Intellectual disability, autosomal recessive 661 test
  • Intellectual disability, X-linked 11 test
  • Intellectual disability, X-linked 1021 test
  • Intellectual disability, X-linked 961 test
  • Intellectual disability, X-linked syndromic, Turner type1 test
  • Intellectual disability, X-linked, syndromic 331 test
  • Intellectual disability, X-linked, with or without seizures, arx-related1 test
  • Intellectual disability, X-linked, with panhypopituitarism2 tests
  • Intervertebral disc disorder2 tests
  • Intestinal hypomagnesemia 11 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked2 tests
  • Intracerebral hemorrhage1 test
  • Iodotyrosine deiodination defect2 tests
  • Iodotyrosyl coupling defect2 tests
  • Irido-corneo-trabecular dysgenesis2 tests
  • Isolated focal cortical dysplasia type II1 test
  • Isolated focal non-epidermolytic palmoplantar keratoderma1 test
  • Isolated growth hormone deficiency type IB1 test
  • Isolated growth hormone deficiency, type 41 test
  • Isolated lutropin deficiency2 tests
  • Isolated microphthalmia 23 tests
  • Isolated microphthalmia 31 test
  • Isolated microphthalmia 42 tests
  • Isolated microphthalmia 52 tests
  • Isolated microphthalmia 62 tests
  • Isolated microphthalmia 72 tests
  • Isolated microphthalmia 81 test
  • Isolated neonatal sclerosing cholangitis2 tests
  • Isolated thyroid-stimulating hormone deficiency3 tests
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Jackson-Weiss syndrome1 test
  • Jalili syndrome1 test
  • Jawad syndrome2 tests
  • Jervell and Lange-Nielsen syndrome 12 tests
  • Jervell and Lange-Nielsen syndrome 22 tests
  • Joubert syndrome 13 tests
  • Joubert syndrome 106 tests
  • Joubert syndrome 121 test
  • Joubert syndrome 134 tests
  • Joubert syndrome 144 tests
  • Joubert syndrome 154 tests
  • Joubert syndrome 164 tests
  • Joubert syndrome 174 tests
  • Joubert syndrome 184 tests
  • Joubert syndrome 193 tests
  • Joubert syndrome 25 tests
  • Joubert syndrome 204 tests
  • Joubert syndrome 214 tests
  • Joubert syndrome 223 tests
  • Joubert syndrome 232 tests
  • Joubert syndrome 244 tests
  • Joubert syndrome 252 tests
  • Joubert syndrome 261 test
  • Joubert syndrome 273 tests
  • Joubert syndrome 283 tests
  • Joubert syndrome 35 tests
  • Joubert syndrome 311 test
  • Joubert syndrome 342 tests
  • Joubert syndrome 56 tests
  • Joubert syndrome 65 tests
  • Joubert syndrome 75 tests
  • Joubert syndrome 84 tests
  • Joubert syndrome 95 tests
  • Joubert syndrome with renal defect6 tests
  • Juberg-Marsidi syndrome2 tests
  • Junctional epidermolysis bullosa gravis of Herlitz1 test
  • Junctional epidermolysis bullosa with pyloric atresia1 test
  • Junctional epidermolysis bullosa, non-Herlitz type1 test
  • Juvenile cataract-microcornea-renal glucosuria syndrome1 test
  • Juvenile myelomonocytic leukemia1 test
  • Juvenile onset Parkinson disease 19A1 test
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
  • Juvenile retinitis pigmentosa, AIPL1-related2 tests
  • Juvenile retinoschisis3 tests
  • Kabuki syndrome 12 tests
  • Kabuki syndrome 21 test
  • Kartagener syndrome3 tests
  • KBG syndrome1 test
  • Keratoconus 12 tests
  • Keratosis follicularis1 test
  • Keratosis follicularis spinulosa decalvans, X-linked2 tests
  • Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1 test
  • Keratosis palmoplantaris striata 21 test
  • Keratosis palmoplantaris striata 33 tests
  • Ketoacidosis due to monocarboxylate transporter-1 deficiency1 test
  • Kindler syndrome1 test
  • Klinefelter syndrome1 test
  • Klippel-Feil syndrome 3, autosomal dominant1 test
  • Kniest dysplasia1 test
  • Knobloch syndrome4 tests
  • Koolen-de Vries syndrome1 test
  • Kostmann syndrome1 test
  • Krabbe disease, atypical, due to saposin A deficiency2 tests
  • Kufor-Rakeb syndrome2 tests
  • L-2-hydroxyglutaric aciduria1 test
  • L-ferritin deficiency1 test
  • LAMB2-related infantile-onset nephrotic syndrome2 tests
  • Lambdoidal craniosynostosis1 test
  • LAMP2-Related Cardiomyopathy1 test
  • Landau-Kleffner syndrome1 test
  • Langer mesomelic dysplasia syndrome1 test
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome1 test
  • Larsen-like syndrome, B3GAT3 type1 test
  • Laryngo-onycho-cutaneous syndrome1 test
  • Late-onset retinal degeneration1 test
  • Lateral meningocele syndrome2 tests
  • Lattice corneal dystrophy Type I2 tests
  • Lattice corneal dystrophy Type III2 tests
  • LCAT deficiency1 test
  • Leber congenital amaurosis 12 tests
  • Leber congenital amaurosis 106 tests
  • Leber congenital amaurosis 112 tests
  • Leber congenital amaurosis 122 tests
  • Leber congenital amaurosis 134 tests
  • Leber congenital amaurosis 142 tests
  • Leber congenital amaurosis 152 tests
  • Leber congenital amaurosis 163 tests
  • Leber congenital amaurosis 172 tests
  • Leber congenital amaurosis 22 tests
  • Leber congenital amaurosis 32 tests
  • Leber congenital amaurosis 43 tests
  • Leber congenital amaurosis 53 tests
  • Leber congenital amaurosis 63 tests
  • Leber congenital amaurosis 73 tests
  • Leber congenital amaurosis 83 tests
  • Leber congenital amaurosis 92 tests
  • Leber optic atrophy1 test
  • Left ventricular noncompaction 13 tests
  • Left ventricular noncompaction 102 tests
  • Left ventricular noncompaction 71 test
  • Left ventricular noncompaction 81 test
  • Left-right axis malformations1 test
  • Legg-Calve-Perthes disease1 test
  • Legius syndrome2 tests
  • Lenz-Majewski hyperostosis syndrome1 test
  • LEOPARD syndrome 21 test
  • Leri-Weill dyschondrosteosis1 test
  • Lethal acantholytic epidermolysis bullosa1 test
  • Lethal congenital glycogen storage disease of heart2 tests
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome1 test
  • Lethal Kniest-like syndrome1 test
  • Lethal multiple pterygium syndrome1 test
  • Lethal osteosclerotic bone dysplasia1 test
  • Leucine-induced hypoglycemia2 tests
  • Leukocyte adhesion deficiency type II1 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2 tests
  • Leukoencephalopathy with mild cerebellar ataxia and white matter edema2 tests
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome2 tests
  • Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2 tests
  • Levy-Hollister syndrome1 test
  • Lewy body dementia1 test
  • Li-Fraumeni syndrome1 test
  • Li-Fraumeni syndrome 13 tests
  • Li-Fraumeni syndrome 21 test
  • Lichtenstein-Knorr syndrome1 test
  • Liddle syndrome1 test
  • Liddle syndrome 21 test
  • Liddle syndrome 31 test
  • Limb-girdle muscular dystrophy due to POMK deficiency3 tests
  • Linear skin defects with multiple congenital anomalies 12 tests
  • Linear skin defects with multiple congenital anomalies 31 test
  • Lipase deficiency, combined1 test
  • Lipoic acid synthetase deficiency2 tests
  • Lipoyl transferase 1 deficiency1 test
  • Lissencephaly 42 tests
  • Lissencephaly due to LIS1 mutation1 test
  • Lissencephaly due to TUBA1A mutation1 test
  • Lissencephaly type 1 due to doublecortin gene mutation2 tests
  • Localized epidermolytic hyperkeratosis3 tests
  • Loeys-Dietz syndrome 13 tests
  • Loeys-Dietz syndrome 23 tests
  • Loeys-Dietz syndrome 42 tests
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency2 tests
  • Long QT syndrome 102 tests
  • Long QT syndrome 112 tests
  • Long QT syndrome 122 tests
  • Long QT syndrome 131 test
  • Long QT syndrome 141 test
  • Long QT syndrome 22 tests
  • Long QT syndrome 33 tests
  • Long QT syndrome 41 test
  • Long QT syndrome 52 tests
  • Long QT syndrome 62 tests
  • Long QT syndrome 93 tests
  • Loricrin keratoderma1 test
  • Luteinizing hormone resistance, female1 test
  • Lymphangiomyomatosis3 tests
  • Lymphatic malformation 71 test
  • Lynch syndrome 16 tests
  • Lynch syndrome 56 tests
  • Lynch syndrome 83 tests
  • Lysinuric protein intolerance1 test
  • Macrocephaly-autism syndrome1 test
  • Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome2 tests
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1 test
  • Macular corneal dystrophy2 tests
  • Macular corneal dystrophy, type II1 test
  • Macular degeneration, age-related, 31 test
  • Macular degeneration, X-linked atrophic2 tests
  • Macular dystrophy with central cone involvement1 test
  • Malignant hyperthermia, susceptibility to, 13 tests
  • Malignant hyperthermia, susceptibility to, 51 test
  • Malignant tumor of breast1 test
  • Malignant tumor of esophagus1 test
  • Malignant tumor of prostate2 tests
  • Malignant tumor of testis1 test
  • Malignant tumor of urinary bladder1 test
  • Mandibuloacral dysplasia with type A lipodystrophy2 tests
  • Mandibulofacial dysostosis-microcephaly syndrome2 tests
  • Map-dot-fingerprint corneal dystrophy2 tests
  • Maple syrup urine disease type 1B1 test
  • Marden-Walker syndrome1 test
  • Marfan syndrome2 tests
  • Marinesco-Sjögren syndrome2 tests
  • Marshall syndrome3 tests
  • Martsolf syndrome1 test
  • MASA syndrome1 test
  • MASS syndrome2 tests
  • Mast syndrome1 test
  • Matthew-Wood syndrome2 tests
  • Maturity-onset diabetes of the young type 12 tests
  • Maturity-onset diabetes of the young type 101 test
  • Maturity-onset diabetes of the young type 111 test
  • Maturity-onset diabetes of the young type 132 tests
  • Maturity-onset diabetes of the young type 22 tests
  • Maturity-onset diabetes of the young type 32 tests
  • Maturity-onset diabetes of the young type 41 test
  • Maturity-onset diabetes of the young type 61 test
  • Maturity-onset diabetes of the young type 71 test
  • Maturity-onset diabetes of the young type 81 test
  • Maturity-onset diabetes of the young type 91 test
  • McCune-Albright syndrome1 test
  • McKusick-Kaufman syndrome2 tests
  • Meacham syndrome1 test
  • Meckel syndrome, type 14 tests
  • Meckel syndrome, type 103 tests
  • Meckel syndrome, type 113 tests
  • Meckel syndrome, type 24 tests
  • Meckel syndrome, type 35 tests
  • Meckel syndrome, type 45 tests
  • Meckel syndrome, type 55 tests
  • Meckel syndrome, type 65 tests
  • Meckel syndrome, type 82 tests
  • Meckel syndrome, type 92 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
  • MEDNIK syndrome1 test
  • Medulloblastoma1 test
  • Meesmann corneal dystrophy2 tests
  • Megaconial type congenital muscular dystrophy1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability1 test
  • Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
  • MEGF10-Related Myopathy1 test
  • Meier-Gorlin syndrome 11 test
  • Meier-Gorlin syndrome 22 tests
  • Meier-Gorlin syndrome 32 tests
  • Meier-Gorlin syndrome 42 tests
  • Meier-Gorlin syndrome 52 tests
  • Meier-Gorlin syndrome 62 tests
  • Meier-Gorlin syndrome 72 tests
  • Meier-Gorlin syndrome 82 tests
  • Melanoma and neural system tumor syndrome1 test
  • Melanoma, cutaneous malignant, susceptibility to, 12 tests
  • Melanoma, cutaneous malignant, susceptibility to, 101 test
  • Melanoma, cutaneous malignant, susceptibility to, 22 tests
  • Melanoma, cutaneous malignant, susceptibility to, 32 tests
  • Melanoma, cutaneous malignant, susceptibility to, 52 tests
  • Melanoma, cutaneous malignant, susceptibility to, 61 test
  • Melanoma, cutaneous malignant, susceptibility to, 82 tests
  • Melanoma, cutaneous malignant, susceptibility to, 91 test
  • Melanoma-pancreatic cancer syndrome1 test
  • Melnick-Fraser syndrome2 tests
  • Melnick-Needles syndrome3 tests
  • MEND syndrome1 test
  • Menke-Hennekam syndrome 11 test
  • Menke-Hennekam syndrome 22 tests
  • Menkes kinky-hair syndrome3 tests
  • Meretoja syndrome2 tests
  • Merosin deficient congenital muscular dystrophy3 tests
  • Mesothelioma, malignant1 test
  • Metabolic myopathy due to lactate transporter defect1 test
  • Metachromatic leukodystrophy4 tests
  • Metaphyseal anadysplasia 21 test
  • Metaphyseal chondrodysplasia, Jansen type1 test
  • Metaphyseal chondrodysplasia, McKusick type1 test
  • Metaphyseal chondrodysplasia, Spahr type1 test
  • Metaphyseal dysplasia without hypotrichosis1 test
  • Metatropic dysplasia1 test
  • Methylcobalamin deficiency type cblE1 test
  • Methylcobalamin deficiency type cblG1 test
  • Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1 test
  • Methylmalonic acidemia due to transcobalamin receptor defect1 test
  • Methylmalonic acidemia with homocystinuria, type cblJ1 test
  • Methylmalonic aciduria and homocystinuria type cblD1 test
  • Methylmalonic aciduria and homocystinuria type cblF1 test
  • Methylmalonic aciduria, cblA type1 test
  • Methylmalonic aciduria, cblB type1 test
  • METHYLMALONIC ACIDURIA, mut(0) TYPE1 test
  • Mevalonic aciduria1 test
  • MGAT2-congenital disorder of glycosylation1 test
  • MHC class II deficiency1 test
  • Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1 test
  • Microcephalic osteodysplastic primordial dwarfism type II2 tests
  • Microcephalic primordial dwarfism due to RTTN deficiency2 tests
  • Microcephalic primordial dwarfism due to ZNF335 deficiency2 tests
  • Microcephaly 1, primary, autosomal recessive2 tests
  • Microcephaly 11, primary, autosomal recessive2 tests
  • Microcephaly 12, primary, autosomal recessive2 tests
  • Microcephaly 13, primary, autosomal recessive2 tests
  • Microcephaly 14, primary, autosomal recessive2 tests
  • Microcephaly 15, primary, autosomal recessive1 test
  • Microcephaly 16, primary, autosomal recessive2 tests
  • Microcephaly 17, primary, autosomal recessive2 tests
  • Microcephaly 18, primary, autosomal dominant2 tests
  • Microcephaly 19, primary, autosomal recessive1 test
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2 tests
  • Microcephaly 20, primary, autosomal recessive2 tests
  • Microcephaly 21, primary, autosomal recessive2 tests
  • Microcephaly 22, primary, autosomal recessive2 tests
  • Microcephaly 23, primary, autosomal recessive2 tests
  • Microcephaly 24, primary, autosomal recessive2 tests
  • Microcephaly 3, primary, autosomal recessive2 tests
  • Microcephaly 4, primary, autosomal recessive2 tests
  • Microcephaly 5, primary, autosomal recessive2 tests
  • Microcephaly 6, primary, autosomal recessive2 tests
  • Microcephaly 7, primary, autosomal recessive2 tests
  • Microcephaly 8, primary, autosomal recessive2 tests
  • Microcephaly 9, primary, autosomal recessive2 tests
  • Microcephaly and chorioretinopathy 11 test
  • Microcephaly and chorioretinopathy 22 tests
  • Microcephaly and chorioretinopathy 32 tests
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability4 tests
  • Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum1 test
  • Microcephaly, epilepsy, and diabetes syndrome3 tests
  • Microcephaly, growth deficiency, seizures, and brain malformations1 test
  • Microcephaly, normal intelligence and immunodeficiency2 tests
  • Microcephaly, seizures, and developmental delay3 tests
  • Microcephaly, short stature, and impaired glucose metabolism 11 test
  • Microcephaly, short stature, and limb abnormalities1 test
  • Microcephaly-capillary malformation syndrome2 tests
  • Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
  • Microcephaly-micromelia syndrome1 test
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma1 test
  • Microcornea-myopic chorioretinal atrophy1 test
  • Microphthalmia with brain and digit anomalies3 tests
  • Microphthalmia with limb anomalies2 tests
  • Microphthalmia, cataracts, and iris abnormalities1 test
  • Microphthalmia, isolated, with coloboma 101 test
  • Microphthalmia, isolated, with coloboma 33 tests
  • Microphthalmia, isolated, with coloboma 51 test
  • Microphthalmia, isolated, with coloboma 62 tests
  • Microphthalmia, isolated, with coloboma 72 tests
  • Microphthalmia, isolated, with coloboma 91 test
  • Microphthalmia, syndromic 12 tests
  • Microphthalmia, syndromic 112 tests
  • Microphthalmia, syndromic 121 test
  • Microspherophakia2 tests
  • Microvascular complications of diabetes, susceptibility to, 71 test
  • Migraine, familial hemiplegic, 12 tests
  • Migraine, familial hemiplegic, 22 tests
  • Migraine, familial hemiplegic, 32 tests
  • Migraine, with or without aura, susceptibility to, 131 test
  • Mismatch repair cancer syndrome 21 test
  • Mismatch repair cancer syndrome 31 test
  • Mitochondrial complex 1 deficiency, nuclear type 171 test
  • Mitochondrial complex 1 deficiency, nuclear type 261 test
  • Mitochondrial complex 1 deficiency, nuclear type 291 test
  • Mitochondrial complex 1 deficiency, nuclear type 301 test
  • Mitochondrial complex I deficiency2 tests
  • Mitochondrial complex III deficiency nuclear type 22 tests
  • Mitochondrial complex III deficiency nuclear type 51 test
  • Mitochondrial complex III deficiency nuclear type 61 test
  • Mitochondrial complex III deficiency nuclear type 71 test
  • Mitochondrial complex III deficiency nuclear type 81 test
  • Mitochondrial complex III deficiency nuclear type 91 test
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 41 test
  • Mitochondrial disease1 test
  • Mitochondrial DNA deletion syndrome with progressive myopathy3 tests
  • Mitochondrial DNA depletion syndrome 12 tests
  • Mitochondrial DNA depletion syndrome 111 test
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
  • Mitochondrial DNA depletion syndrome 131 test
  • Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type);1 test
  • Mitochondrial DNA depletion syndrome 4b3 tests
  • Mitochondrial DNA depletion syndrome 8a1 test
  • Mitochondrial DNA depletion syndrome 91 test
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria2 tests
  • Mitochondrial DNA depletion syndrome, myopathic form1 test
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
  • Mitochondrial non-syndromic sensorineural hearing loss1 test
  • Mitochondrial pyruvate carrier deficiency1 test
  • Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1 test
  • Mitochondrial trifunctional protein deficiency2 tests
  • Miyoshi muscular dystrophy 12 tests
  • Miyoshi muscular dystrophy 33 tests
  • MOGS-congenital disorder of glycosylation1 test
  • Monocytopenia with susceptibility to infections1 test
  • MORM syndrome2 tests
  • Mowat-Wilson syndrome3 tests
  • MPDU1-congenital disorder of glycosylation1 test
  • MPI-congenital disorder of glycosylation1 test
  • MTHFR THERMOLABILE POLYMORPHISM1 test
  • Mucolipidosis type II1 test
  • Mucolipidosis type III gamma2 tests
  • Mucolipidosis type IV2 tests
  • Mucopolysaccharidosis type 62 tests
  • Mucopolysaccharidosis type 72 tests
  • Mucopolysaccharidosis, MPS-I-H/S3 tests
  • Mucopolysaccharidosis, MPS-I-S3 tests
  • Mucopolysaccharidosis, MPS-II2 tests
  • Mucopolysaccharidosis, MPS-III-A2 tests
  • Mucopolysaccharidosis, MPS-III-B2 tests
  • Mucopolysaccharidosis, MPS-III-C2 tests
  • Mucopolysaccharidosis, MPS-III-D2 tests
  • Mucopolysaccharidosis, MPS-IV-A2 tests
  • Mucopolysaccharidosis, MPS-IV-B2 tests
  • Muenke syndrome2 tests
  • Muir-Torré syndrome3 tests
  • Mulibrey nanism syndrome1 test
  • Mullegama-Klein-Martinez syndrome1 test
  • Multiple acyl-CoA dehydrogenase deficiency3 tests
  • Multiple benign circumferential skin creases on limbs 11 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
  • Multiple congenital exostosis1 test
  • Multiple cutaneous leiomyomas1 test
  • Multiple endocrine neoplasia, type 13 tests
  • Multiple endocrine neoplasia, type 21 test
  • Multiple endocrine neoplasia, type 2a1 test
  • Multiple endocrine neoplasia, type 2b1 test
  • Multiple epiphyseal dysplasia type 12 tests
  • Multiple epiphyseal dysplasia type 41 test
  • Multiple epiphyseal dysplasia type 51 test
  • Multiple epiphyseal dysplasia, Beighton type1 test
  • Multiple fibrofolliculomas1 test
  • Multiple gastrointestinal atresias1 test
  • Multiple mitochondrial dysfunctions syndrome 31 test
  • Multiple mitochondrial dysfunctions syndrome 41 test
  • Multiple myeloma1 test
  • Multiple sulfatase deficiency3 tests
  • Multiple system atrophy1 test
  • Mungan syndrome1 test
  • Muscle AMP deaminase deficiency1 test
  • Muscle eye brain disease2 tests
  • Muscular dystrophy, limb-girdle, autosomal recessive 232 tests
  • Muscular dystrophy-dystroglycanopathy1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 102 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 123 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 44 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 73 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 83 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A132 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A144 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A22 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A53 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A62 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A93 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 151 test
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B13 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B144 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B22 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B33 tests
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B44 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 82 tests
  • Muscular dystrophy-dystroglycanopathy type B53 tests
  • Muscular dystrophy-dystroglycanopathy type B62 tests
  • Mutilating keratoderma1 test
  • Myasthenic syndrome, congenital, 1B, fast-channel1 test
  • Myasthenic syndrome, congenital, 221 test
  • Myasthenic syndrome, congenital, 25, presynaptic1 test
  • Myasthenic syndrome, slow-channel congenital1 test
  • Myelodysplastic syndrome1 test
  • MYH7-related late-onset scapuloperoneal muscular dystrophy2 tests
  • MYH7-related skeletal myopathy2 tests
  • Myoclonic dystonia 111 test
  • Myoclonic dystonia 261 test
  • Myoclonic-atonic epilepsy1 test
  • Myoclonus, familial, 11 test
  • Myofibrillar myopathy1 test
  • Myofibrillar myopathy 22 tests
  • Myofibrillar myopathy 32 tests
  • Myofibrillar myopathy 42 tests
  • Myofibrillar myopathy 52 tests
  • Myofibrillar myopathy 61 test
  • Myofibromatosis, infantile, 21 test
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Myopathy with abnormal lipid metabolism1 test
  • Myopathy, centronuclear, 31 test
  • Myopathy, distal, with rimmed vacuoles1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 21 test
  • Myopathy, myofibrillar, 9, with early respiratory failure3 tests
  • Myopathy, myosin storage, autosomal recessive2 tests
  • Myopathy, reducing body, X-linked, childhood-onset1 test
  • Myopathy, reducing body, X-linked, early-onset, severe1 test
  • Myopathy, tubular aggregate, 11 test
  • Myopathy, tubular aggregate, 21 test
  • Myopia 21, autosomal dominant1 test
  • Myopia, high, with cataract and vitreoretinal degeneration2 tests
  • Myosclerosis1 test
  • Myosin storage myopathy2 tests
  • Naegeli-Franceschetti-Jadassohn syndrome1 test
  • Nail-patella syndrome1 test
  • Namaqualand hip dysplasia1 test
  • Nance-Horan syndrome1 test
  • Nanophthalmos 21 test
  • Nasopharyngeal carcinoma1 test
  • Naxos disease4 tests
  • NDE1-related microhydranencephaly1 test
  • Nemaline myopathy 11 test
  • Nemaline myopathy 101 test
  • Nemaline myopathy 22 tests
  • Nemaline myopathy 41 test
  • Nemaline myopathy 51 test
  • Nemaline myopathy 71 test
  • Nemaline myopathy 81 test
  • Nemaline myopathy 91 test
  • Neonatal diabetes mellitus with congenital hypothyroidism1 test
  • Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1 test
  • Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
  • Neonatal intrahepatic cholestasis due to citrin deficiency1 test
  • Neonatal pseudo-hydrocephalic progeroid syndrome1 test
  • Neonatal severe primary hyperparathyroidism3 tests
  • Neonatal-onset encephalopathy with rigidity and seizures1 test
  • Neoplasm of stomach1 test
  • Nephroblastoma1 test
  • Nephronophthisis 13 tests
  • Nephronophthisis 112 tests
  • Nephronophthisis 124 tests
  • Nephronophthisis 134 tests
  • Nephronophthisis 142 tests
  • Nephronophthisis 152 tests
  • Nephronophthisis 163 tests
  • Nephronophthisis 182 tests
  • Nephronophthisis 192 tests
  • Nephronophthisis 34 tests
  • Nephronophthisis 42 tests
  • Nephronophthisis 72 tests
  • Nephronophthisis 81 test
  • Nephronophthisis 92 tests
  • Nephronophthisis-like nephropathy 12 tests
  • Nephropathic cystinosis1 test
  • Nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome1 test
  • Nephrotic syndrome, type 101 test
  • Nephrotic syndrome, type 21 test
  • Nephrotic syndrome, type 31 test
  • Nephrotic syndrome, type 42 tests
  • Nephrotic syndrome, type 61 test
  • Nephrotic syndrome, type 81 test
  • Nephrotic syndrome, type 91 test
  • Nesidioblastosis1 test
  • Netherton syndrome1 test
  • Neu-Laxova syndrome 12 tests
  • Neu-Laxova syndrome 22 tests
  • Neuroblastoma1 test
  • Neuroblastoma, susceptibility to, 21 test
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset2 tests
  • Neurodegeneration with brain iron accumulation1 test
  • Neurodegeneration with brain iron accumulation 2B2 tests
  • Neurodegeneration with brain iron accumulation 43 tests
  • Neurodegeneration with brain iron accumulation 52 tests
  • Neurodegeneration with brain iron accumulation 61 test
  • Neurodevelopmental disorder with absent language and variable seizures2 tests
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination3 tests
  • Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity1 test
  • Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1 test
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive1 test
  • Neurodevelopmental disorder with poor language and loss of hand skills1 test
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1 test
  • Neurodevelopmental disorder with visual defects and brain anomalies1 test
  • Neuroferritinopathy2 tests
  • Neurofibromatosis, familial spinal2 tests
  • Neurofibromatosis, type 12 tests
  • Neurofibromatosis, type 22 tests
  • Neurofibromatosis-Noonan syndrome3 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type2 tests
  • Neuronal ceroid lipofuscinosis 13 tests
  • Neuronal ceroid lipofuscinosis 102 tests
  • Neuronal ceroid lipofuscinosis 111 test
  • Neuronal ceroid lipofuscinosis 131 test
  • Neuronal ceroid lipofuscinosis 23 tests
  • Neuronal ceroid lipofuscinosis 33 tests
  • Neuronal ceroid lipofuscinosis 53 tests
  • Neuronal ceroid lipofuscinosis 72 tests
  • Neuronal ceroid lipofuscinosis 83 tests
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant2 tests
  • Neuronopathy, distal hereditary motor, type 11 test
  • Neuronopathy, distal hereditary motor, type 2A1 test
  • Neuronopathy, distal hereditary motor, type 2B1 test
  • Neuronopathy, distal hereditary motor, type 2C1 test
  • Neuronopathy, distal hereditary motor, type 5A2 tests
  • Neuronopathy, distal hereditary motor, type 5B1 test
  • Neuronopathy, distal hereditary motor, type 7A2 tests
  • Neuronopathy, distal hereditary motor, type 7B1 test
  • Neuronopathy, distal hereditary motor, type 91 test
  • Neuropathy, hereditary motor and sensory, type 6B3 tests
  • Neuropathy, hereditary sensory and autonomic, type 1C1 test
  • Neuropathy, hereditary sensory and autonomic, type 2A2 tests
  • Neuropathy, hereditary sensory, type 2C1 test
  • Neutral lipid storage myopathy2 tests
  • Neutropenia, severe congenital, 1, autosomal dominant1 test
  • Neutropenia, severe congenital, 2, autosomal dominant1 test
  • Neutropenia, severe congenital, 8, autosomal dominant1 test
  • Neutrophil immunodeficiency syndrome2 tests
  • Newfoundland cone-rod dystrophy1 test
  • Nicolaides-Baraitser syndrome1 test
  • Niemann-Pick disease, type A2 tests
  • Niemann-Pick disease, type B1 test
  • Niemann-Pick disease, type C11 test
  • Niemann-Pick disease, type C22 tests
  • Niemann-Pick disease, type D1 test
  • Nijmegen breakage syndrome-like disorder3 tests
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities2 tests
  • Non-Hodgkin lymphoma1 test
  • Non-ketotic hyperglycinemia2 tests
  • Nonimmune chronic idiopathic neutropenia of adults1 test
  • Nonpapillary renal cell carcinoma4 tests
  • Nonprogressive cerebellar atxia with intellectual disability1 test
  • Nonsyndromic congenital nail disorder 81 test
  • Noonan syndrome1 test
  • Noonan syndrome 11 test
  • Noonan syndrome 102 tests
  • Noonan syndrome 111 test
  • Noonan syndrome 121 test
  • Noonan syndrome 31 test
  • Noonan syndrome 42 tests
  • Noonan syndrome 52 tests
  • Noonan syndrome 61 test
  • Noonan syndrome 71 test
  • Noonan syndrome 81 test
  • Noonan syndrome 91 test
  • Noonan syndrome-like disorder with loose anagen hair1 test
  • Noonan syndrome-like disorder with loose anagen hair 21 test
  • Norman-Roberts syndrome1 test
  • NPHP3-related Meckel-like syndrome3 tests
  • Nuclear pulverulent cataract2 tests
  • Nystagmus 6, congenital, X-linked1 test
  • Occipital pachygyria and polymicrogyria1 test
  • Occult macular dystrophy1 test
  • Ocular albinism with congenital sensorineural hearing loss2 tests
  • Ocular albinism, type I2 tests
  • Ocular albinism, type II1 test
  • Ocular anterior segment dysgenesis2 tests
  • Ocular cystinosis1 test
  • Oculoauricular syndrome1 test
  • Oculocutaneous albinism type 12 tests
  • Oculocutaneous albinism type 1B2 tests
  • Oculocutaneous albinism type 32 tests
  • Oculocutaneous albinism type 42 tests
  • Oculocutaneous albinism type 51 test
  • Oculocutaneous albinism type 71 test
  • Oculodentodigital dysplasia2 tests
  • Oculodentodigital dysplasia, autosomal recessive2 tests
  • Oculofaciocardiodental syndrome3 tests
  • Oculotrichoanal syndrome2 tests
  • Oguchi disease2 tests
  • Oguchi disease-23 tests
  • Okur-Chung neurodevelopmental syndrome1 test
  • Olmsted syndrome 11 test
  • Olmsted syndrome, X-linked2 tests
  • Oocyte maturation defect 21 test
  • Opsismodysplasia1 test
  • Optic atrophy 32 tests
  • Optic atrophy 91 test
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
  • Optic nerve hypoplasia, bilateral3 tests
  • Ornithine aminotransferase deficiency2 tests
  • Ornithine carbamoyltransferase deficiency2 tests
  • Orofacial cleft 111 test
  • Orofacial-digital syndrome IV2 tests
  • Orofaciodigital syndrome I3 tests
  • Orofaciodigital syndrome type 142 tests
  • Orofaciodigital syndrome type 63 tests
  • Osteoarthritis of distal interphalangeal joint1 test
  • Osteocraniostenosis2 tests
  • Osteogenesis imperfecta type 102 tests
  • Osteogenesis imperfecta type 112 tests
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 131 test
  • Osteogenesis imperfecta type 142 tests
  • Osteogenesis imperfecta type 152 tests
  • Osteogenesis imperfecta type 161 test
  • Osteogenesis imperfecta type 171 test
  • Osteogenesis imperfecta type 52 tests
  • Osteogenesis imperfecta type 61 test
  • Osteogenesis imperfecta type 72 tests
  • Osteogenesis imperfecta type 82 tests
  • Osteogenesis imperfecta type 92 tests
  • Osteogenesis imperfecta type I3 tests
  • Osteogenesis imperfecta type III3 tests
  • Osteogenesis imperfecta with normal sclerae, dominant form3 tests
  • Osteogenesis imperfecta, recessive perinatal lethal3 tests
  • Osteogenesis imperfecta, type 181 test
  • Osteogenesis imperfecta, type 192 tests
  • Osteogenesis imperfecta, type 201 test
  • Osteogenesis imperfecta, type 211 test
  • Osteogenesis imperfecta, type III/IV1 test
  • Osteopetrosis with renal tubular acidosis2 tests
  • Osteopetrosis, autosomal dominant 31 test
  • Osteoporosis with pseudoglioma3 tests
  • OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO1 test
  • Otitis media, susceptibility to1 test
  • Oto-palato-digital syndrome, type I3 tests
  • Oto-palato-digital syndrome, type II3 tests
  • Otofaciocervical syndrome 11 test
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant4 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive2 tests
  • Ovarian dysgenesis 11 test
  • Ovarian dysgenesis 21 test
  • Ovarian dysgenesis 81 test
  • Ovarian hyperstimulation syndrome1 test
  • Ovarian response to FSH stimulation1 test
  • Pachyonychia congenita 11 test
  • PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia1 test
  • Paget disease of bone 2, early-onset1 test
  • Paget disease of bone 31 test
  • Pallister-Hall syndrome1 test
  • Palmoplantar keratoderma i, striate, focal, or diffuse2 tests
  • Palmoplantar keratoderma, Bothnian type1 test
  • Palmoplantar keratoderma, Nagashima type1 test
  • Palmoplantar keratoderma, nonepidermolytic, focal 11 test
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
  • Palmoplantar keratoderma, punctate type 1A1 test
  • Palmoplantar keratoderma-deafness syndrome1 test
  • Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
  • Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome1 test
  • Pancreatic cancer, susceptibility to, 21 test
  • Pancreatic cancer, susceptibility to, 31 test
  • Pancreatic cancer, susceptibility to, 41 test
  • Panhypopituitarism, X-linked2 tests
  • Papillary renal cell carcinoma type 11 test
  • Papillary thyroid carcinoma1 test
  • Papillary thyroid Microcarcinoma1 test
  • Paragangliomas 12 tests
  • Paragangliomas 21 test
  • Paragangliomas 32 tests
  • Paragangliomas 42 tests
  • Paragangliomas 51 test
  • Paramyotonia congenita of Von Eulenburg2 tests
  • Parastremmatic dwarfism1 test
  • Parathyroid carcinoma3 tests
  • Parietal foramina 21 test
  • Parkinson disease 11, autosomal dominant, susceptibility to1 test
  • Parkinson disease 13, autosomal dominant, susceptibility to2 tests
  • Parkinson disease 171 test
  • Parkinson disease 18, autosomal dominant, susceptibility to1 test
  • Parkinson disease 22, autosomal dominant1 test
  • Parkinson disease 5, autosomal dominant, susceptibility to1 test
  • Parkinsonian-pyramidal syndrome1 test
  • Parkinsonism-dystonia, infantile2 tests
  • Paroxysmal extreme pain disorder1 test
  • Paroxysmal nonkinesigenic dyskinesia1 test
  • Paroxysmal nonkinesigenic dyskinesia 12 tests
  • Partial albinism1 test
  • Partial androgen insensitivity syndrome1 test
  • Partington syndrome1 test
  • Patterned dystrophy of the retinal pigment epithelium1 test
  • Patterned macular dystrophy 21 test
  • PCWH syndrome3 tests
  • Peeling skin syndrome 13 tests
  • Peeling skin syndrome type A1 test
  • Pelger-Huët anomaly1 test
  • Pelizaeus-Merzbacher disease1 test
  • Pendred syndrome4 tests
  • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development1 test
  • Periventricular heterotopia with microcephaly, autosomal recessive1 test
  • Periventricular nodular heterotopia 61 test
  • Periventricular nodular heterotopia 71 test
  • Perlman syndrome2 tests
  • Permanent neonatal diabetes mellitus1 test
  • Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome1 test
  • Peroxisome biogenesis disorder1 test
  • Peroxisome biogenesis disorder 10A (Zellweger)1 test
  • Peroxisome biogenesis disorder 10B1 test
  • Peroxisome biogenesis disorder 11A (Zellweger)1 test
  • Peroxisome biogenesis disorder 11B1 test
  • Peroxisome biogenesis disorder 12A (Zellweger)1 test
  • Peroxisome biogenesis disorder 13A (Zellweger)1 test
  • Peroxisome biogenesis disorder 14B1 test
  • Peroxisome biogenesis disorder 1B1 test
  • Peroxisome biogenesis disorder 2A (Zellweger)1 test
  • Peroxisome biogenesis disorder 2B2 tests
  • Peroxisome biogenesis disorder 3A (Zellweger)1 test
  • Peroxisome biogenesis disorder 5A (Zellweger)1 test
  • Peroxisome biogenesis disorder 5B1 test
  • Peroxisome biogenesis disorder 6A (Zellweger)1 test
  • Peroxisome biogenesis disorder 6B1 test
  • Peroxisome biogenesis disorder 7A (Zellweger)1 test
  • Peroxisome biogenesis disorder 7B1 test
  • Peroxisome biogenesis disorder 8A (Zellweger)1 test
  • Peroxisome biogenesis disorder 8B1 test
  • Peroxisome biogenesis disorder 9B4 tests
  • Perrault syndrome 11 test
  • Perrault syndrome 21 test
  • Perrault syndrome 31 test
  • Perrault syndrome 42 tests
  • Perry syndrome1 test
  • Persistent hyperplastic primary vitreous, autosomal recessive1 test
  • Peters plus syndrome3 tests
  • Peutz-Jeghers syndrome3 tests
  • Pfeiffer syndrome1 test
  • PGM1-congenital disorder of glycosylation3 tests
  • PHARC syndrome4 tests
  • Phenylketonuria1 test
  • Pheochromocytoma4 tests
  • PHGDH deficiency2 tests
  • Phosphate transport defect1 test
  • Phytanic acid storage disease3 tests
  • Pierson syndrome2 tests
  • Pigmentary pallidal degeneration2 tests
  • Pigmentary retinal dystrophy3 tests
  • Pigmented paravenous retinochoroidal atrophy2 tests
  • Pitt-Hopkins syndrome2 tests
  • Pitt-Hopkins-like syndrome 21 test
  • Pituitary adenoma predisposition1 test
  • Pituitary hormone deficiency, combined, 14 tests
  • Pituitary hormone deficiency, combined, 24 tests
  • Pituitary hormone deficiency, combined, 63 tests
  • Pityriasis rubra pilaris1 test
  • Platelet-type bleeding disorder 161 test
  • Platyspondylic dysplasia, Torrance type1 test
  • Pleuropulmonary blastoma1 test
  • PMM2-congenital disorder of glycosylation3 tests
  • Poikiloderma with neutropenia1 test
  • Polycystic kidney disease 22 tests
  • Polycystic kidney disease 3 with or without polycystic liver disease1 test
  • Polycystic kidney disease 51 test
  • Polycystic kidney disease 6 with or without polycystic liver disease1 test
  • Polycystic kidney disease, adult type1 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 21 test
  • Polycystic liver disease 11 test
  • Polycystic liver disease 21 test
  • Polycystic liver disease 3 with or without kidney cysts1 test
  • Polycystic liver disease 4 with or without kidney cysts3 tests
  • Polydactyly, postaxial, type A11 test
  • Polyglucosan body myopathy type 21 test
  • Polymicrogyria with optic nerve hypoplasia1 test
  • Polymicrogyria with or without vascular-type ehlers-danlos syndrome1 test
  • Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis1 test
  • Polysyndactyly 41 test
  • Pontocerebellar hypoplasia type 101 test
  • Pontocerebellar hypoplasia type 1B2 tests
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 2B1 test
  • Pontocerebellar hypoplasia type 2C1 test
  • Pontocerebellar hypoplasia type 2D1 test
  • Pontocerebellar hypoplasia type 41 test
  • Pontocerebellar hypoplasia type 61 test
  • Pontocerebellar hypoplasia type 81 test
  • Pontocerebellar hypoplasia type 91 test
  • Pontocerebellar hypoplasia, type 1C1 test
  • Porencephaly-microcephaly-bilateral congenital cataract syndrome1 test
  • Porphyria1 test
  • Posterior column ataxia-retinitis pigmentosa syndrome2 tests
  • Posterior polymorphous corneal dystrophy 11 test
  • Posterior polymorphous corneal dystrophy 22 tests
  • Posterior polymorphous corneal dystrophy 32 tests
  • Postmenopausal osteoporosis2 tests
  • PPARG-related familial partial lipodystrophy1 test
  • Pregnancy loss, recurrent, susceptibility to, 11 test
  • Pregnancy loss, recurrent, susceptibility to, 21 test
  • Premature ovarian failure 11 test
  • Preterm premature rupture of membranes1 test
  • Pretibial blistering1 test
  • Primary ciliary dyskinesia 102 tests
  • Primary ciliary dyskinesia 112 tests
  • Primary ciliary dyskinesia 122 tests
  • Primary ciliary dyskinesia 132 tests
  • Primary ciliary dyskinesia 142 tests
  • Primary ciliary dyskinesia 152 tests
  • Primary ciliary dyskinesia 162 tests
  • Primary ciliary dyskinesia 172 tests
  • Primary ciliary dyskinesia 182 tests
  • Primary ciliary dyskinesia 193 tests
  • Primary ciliary dyskinesia 22 tests
  • Primary ciliary dyskinesia 202 tests
  • Primary ciliary dyskinesia 212 tests
  • Primary ciliary dyskinesia 222 tests
  • Primary ciliary dyskinesia 232 tests
  • Primary ciliary dyskinesia 242 tests
  • Primary ciliary dyskinesia 252 tests
  • Primary ciliary dyskinesia 262 tests
  • Primary ciliary dyskinesia 272 tests
  • Primary ciliary dyskinesia 282 tests
  • Primary ciliary dyskinesia 292 tests
  • Primary ciliary dyskinesia 33 tests
  • Primary ciliary dyskinesia 302 tests
  • Primary ciliary dyskinesia 322 tests
  • Primary ciliary dyskinesia 332 tests
  • Primary ciliary dyskinesia 62 tests
  • Primary ciliary dyskinesia 73 tests
  • Primary ciliary dyskinesia 92 tests
  • Primary coenzyme Q10 deficiency 81 test
  • Primary dilated cardiomyopathy1 test
  • Primary erythromelalgia2 tests
  • Primary failure of tooth eruption1 test
  • Primary familial hypertrophic cardiomyopathy2 tests
  • Primary hypomagnesemia2 tests
  • Primary immunodeficiency syndrome due to p14 deficiency1 test
  • Primary pulmonary hypertension1 test
  • Progeroid and marfanoid aspect-lipodystrophy syndrome1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 13 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 32 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 21 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31 test
  • Progressive familial heart block type IB1 test
  • Progressive myoclonic epilepsy1 test
  • Progressive myoclonic epilepsy type 31 test
  • Progressive myoclonic epilepsy type 62 tests
  • Progressive myoclonic epilepsy type 71 test
  • Progressive myoclonic epilepsy type 81 test
  • Progressive myositis ossificans1 test
  • Progressive osseous heteroplasia1 test
  • Progressive pseudorheumatoid dysplasia1 test
  • Progressive retinal dystrophy due to retinol transport defect1 test
  • Progressive scapulohumeroperoneal distal myopathy1 test
  • Progressive sclerosing poliodystrophy2 tests
  • Progressive supranuclear palsy-parkinsonism syndrome1 test
  • Prolactin-producing pituitary gland adenoma1 test
  • Proliferative vitreoretinopathy1 test
  • Propionic acidemia1 test
  • Prostate cancer, hereditary, 11 test
  • Prostate cancer, hereditary, 91 test
  • Proteasome-associated autoinflammatory syndrome 21 test
  • Proximal myopathy with extrapyramidal signs2 tests
  • PSAT deficiency2 tests
  • Pseudo-Hurler polydystrophy1 test
  • Pseudo-TORCH syndrome1 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
  • Pseudoexfoliation glaucoma1 test
  • Pseudohyperaldosteronism type 21 test
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoparathyroidism2 tests
  • Pseudohypoparathyroidism type 1B2 tests
  • Pseudohypoparathyroidism type 1C2 tests
  • Pseudopseudohypoparathyroidism2 tests
  • Pseudoxanthoma elasticum2 tests
  • Psoriasis 21 test
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism1 test
  • PTEN hamartoma tumor syndrome3 tests
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency1 test
  • Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia1 test
  • PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1 test
  • Purine-nucleoside phosphorylase deficiency1 test
  • PYCR1-related de Barsy syndrome2 tests
  • Pyknodysostosis2 tests
  • Pyridoxal phosphate-responsive seizures1 test
  • Pyridoxine-dependent epilepsy1 test
  • Pyruvate dehydrogenase E1-alpha deficiency1 test
  • Pyruvate dehydrogenase E1-beta deficiency1 test
  • Pyruvate dehydrogenase E2 deficiency1 test
  • Pyruvate dehydrogenase E3 deficiency2 tests
  • Pyruvate dehydrogenase E3-binding protein deficiency1 test
  • Pyruvate dehydrogenase phosphatase deficiency1 test
  • RAB23-related Carpenter syndrome1 test
  • Rafiq syndrome1 test
  • Recessive dystrophic epidermolysis bullosa1 test
  • Recombination rate quantitative trait locus 11 test
  • Red-green dyschromatopsia1 test
  • Refsum disease, adult, 11 test
  • Regressive spondylometaphyseal dysplasia1 test
  • Reis-Bucklers' corneal dystrophy2 tests
  • Renal carnitine transport defect2 tests
  • Renal cell carcinoma1 test
  • Renal coloboma syndrome2 tests
  • Renal cysts and diabetes syndrome2 tests
  • Renal dysplasia and retinal aplasia2 tests
  • Renal dysplasia, cystic, susceptibility to1 test
  • Renal hypomagnesemia 22 tests
  • Renal hypomagnesemia 41 test
  • Renal hypomagnesemia 5 with ocular involvement2 tests
  • Renal hypomagnesemia 61 test
  • Renal tubular acidosis with progressive nerve deafness2 tests
  • Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
  • Renal-hepatic-pancreatic dysplasia1 test
  • Renal-hepatic-pancreatic dysplasia 12 tests
  • Renal-hepatic-pancreatic dysplasia 22 tests
  • Renpenning syndrome1 test
  • Reticular dysgenesis1 test
  • Retinal arterial tortuosity2 tests
  • Retinal cone dystrophy 3A2 tests
  • Retinal cone dystrophy 42 tests
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies1 test
  • Retinal dystrophy with or without macular staphyloma2 tests
  • Retinal macular dystrophy type 21 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations2 tests
  • Retinitis pigmentosa1 test
  • Retinitis pigmentosa 13 tests
  • Retinitis pigmentosa 103 tests
  • Retinitis pigmentosa 113 tests
  • Retinitis pigmentosa 123 tests
  • Retinitis pigmentosa 133 tests
  • Retinitis pigmentosa 142 tests
  • Retinitis pigmentosa 173 tests
  • Retinitis pigmentosa 183 tests
  • Retinitis pigmentosa 191 test
  • Retinitis pigmentosa 23 tests
  • Retinitis pigmentosa 203 tests
  • Retinitis pigmentosa 233 tests
  • Retinitis pigmentosa 252 tests
  • Retinitis pigmentosa 263 tests
  • Retinitis pigmentosa 273 tests
  • Retinitis pigmentosa 283 tests
  • Retinitis pigmentosa 33 tests
  • Retinitis pigmentosa 303 tests
  • Retinitis pigmentosa 314 tests
  • Retinitis pigmentosa 332 tests
  • Retinitis pigmentosa 353 tests
  • Retinitis pigmentosa 362 tests
  • Retinitis pigmentosa 374 tests
  • Retinitis pigmentosa 382 tests
  • Retinitis pigmentosa 392 tests
  • Retinitis pigmentosa 43 tests
  • Retinitis pigmentosa 402 tests
  • Retinitis pigmentosa 412 tests
  • Retinitis pigmentosa 422 tests
  • Retinitis pigmentosa 432 tests
  • Retinitis pigmentosa 443 tests
  • Retinitis pigmentosa 452 tests
  • Retinitis pigmentosa 462 tests
  • Retinitis pigmentosa 472 tests
  • Retinitis pigmentosa 483 tests
  • Retinitis pigmentosa 492 tests
  • Retinitis pigmentosa 504 tests
  • Retinitis pigmentosa 512 tests
  • Retinitis pigmentosa 543 tests
  • Retinitis pigmentosa 551 test
  • Retinitis pigmentosa 562 tests
  • Retinitis pigmentosa 572 tests
  • Retinitis pigmentosa 582 tests
  • Retinitis pigmentosa 594 tests
  • Retinitis pigmentosa 603 tests
  • Retinitis pigmentosa 613 tests
  • Retinitis pigmentosa 623 tests
  • Retinitis pigmentosa 641 test
  • Retinitis pigmentosa 662 tests
  • Retinitis pigmentosa 73 tests
  • Retinitis pigmentosa 7, digenic1 test
  • Retinitis pigmentosa 714 tests
  • Retinitis pigmentosa 721 test
  • Retinitis pigmentosa 791 test
  • Retinitis pigmentosa 801 test
  • Retinitis pigmentosa 93 tests
  • Retinitis pigmentosa and erythrocytic microcytosis2 tests
  • RETINITIS PIGMENTOSA AND SINORESPIRATORY INFECTIONS WITH OR WITHOUT DEAFNESS3 tests
  • RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED1 test
  • Retinoblastoma2 tests
  • Rett syndrome1 test
  • Rett syndrome, congenital variant1 test
  • Reynolds syndrome1 test
  • RFT1-congenital disorder of glycosylation1 test
  • Rhabdoid tumor predisposition syndrome 13 tests
  • Rhabdomyosarcoma, embryonal, 22 tests
  • Rheumatoid arthritis1 test
  • Rhizomelic chondrodysplasia punctata type 13 tests
  • Rhizomelic chondrodysplasia punctata type 21 test
  • Rhizomelic chondrodysplasia punctata type 31 test
  • Rhizomelic chondrodysplasia punctata type 51 test
  • RHYNS syndrome1 test
  • Right atrial isomerism1 test
  • RIN2 syndrome2 tests
  • Ring dermoid of cornea1 test
  • Rippling muscle disease2 tests
  • Rippling muscle disease 22 tests
  • Ritscher-Schinzel syndrome1 test
  • Ritscher-Schinzel syndrome 21 test
  • Roberts-SC phocomelia syndrome1 test
  • Robinow syndrome1 test
  • Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked2 tests
  • Rothmund-Thomson syndrome1 test
  • Rubinstein-Taybi syndrome1 test
  • Rubinstein-Taybi syndrome due to CREBBP mutations1 test
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency2 tests
  • Saccharopinuria1 test
  • Saethre-Chotzen syndrome1 test
  • Saldino-Mainzer syndrome3 tests
  • Salla disease1 test
  • Sandhoff disease1 test
  • Sarcotubular myopathy2 tests
  • Scapuloperoneal spinal muscular atrophy1 test
  • Schimke immuno-osseous dysplasia1 test
  • Schizencephaly1 test
  • Schneckenbecken dysplasia1 test
  • Schnyder crystalline corneal dystrophy2 tests
  • Schwannomatosis 12 tests
  • Schwannomatosis 21 test
  • Schwartz-Jampel syndrome1 test
  • Sclerosteosis 21 test
  • Seckel syndrome 12 tests
  • Seckel syndrome 102 tests
  • Seckel syndrome 22 tests
  • Seckel syndrome 51 test
  • Seckel syndrome 62 tests
  • Seckel syndrome 72 tests
  • Seckel syndrome 83 tests
  • Seckel syndrome 92 tests
  • Seizures, benign familial infantile, 23 tests
  • Seizures, benign familial infantile, 31 test
  • Seizures, benign familial neonatal, 12 tests
  • Selective pituitary resistance to thyroid hormone3 tests
  • Sengers syndrome2 tests
  • Senior-Loken syndrome 12 tests
  • Senior-Loken syndrome 44 tests
  • Senior-Loken syndrome 54 tests
  • Senior-Loken syndrome 64 tests
  • Senior-Loken syndrome 74 tests
  • Senior-Loken syndrome 85 tests
  • Senior-Loken syndrome 91 test
  • Sensorineural deafness with mild renal dysfunction1 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
  • Septo-optic dysplasia sequence4 tests
  • Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
  • Severe combined immunodeficiency due to CARD11 deficiency1 test
  • Severe combined immunodeficiency due to CORO1A deficiency1 test
  • Severe combined immunodeficiency due to DNA-PKcs deficiency1 test
  • Severe combined immunodeficiency due to IKK2 deficiency1 test
  • Severe combined immunodeficiency due to LCK deficiency1 test
  • Severe combined immunodeficiency, athabascan-type1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1 test
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome2 tests
  • Severe early-childhood-onset retinal dystrophy3 tests
  • Severe neonatal-onset encephalopathy with microcephaly2 tests
  • Severe X-linked mitochondrial encephalomyopathy1 test
  • Severe X-linked myotubular myopathy1 test
  • Short QT syndrome type 12 tests
  • Short QT syndrome type 22 tests
  • Short QT syndrome type 33 tests
  • Short stature due to growth hormone qualitative anomaly1 test
  • Short stature due to partial GHR deficiency1 test
  • Short stature with nonspecific skeletal abnormalities1 test
  • Short stature, microcephaly, and endocrine dysfunction1 test
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome2 tests
  • Short-rib thoracic dysplasia 10 with or without polydactyly3 tests
  • Short-rib thoracic dysplasia 11 with or without polydactyly3 tests
  • Short-rib thoracic dysplasia 13 with or without polydactyly2 tests
  • Short-rib thoracic dysplasia 14 with polydactyly2 tests
  • Short-rib thoracic dysplasia 15 with polydactyly1 test
  • Short-rib thoracic dysplasia 16 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 17 with or without polydactyly1 test
  • Short-rib thoracic dysplasia 18 with polydactyly1 test
  • Short-rib thoracic dysplasia 6 with or without polydactyly3 tests
  • Short-rib thoracic dysplasia 7 with or without polydactyly3 tests
  • Short-rib thoracic dysplasia 8 with or without polydactyly2 tests
  • SHOX-related short stature1 test
  • Shprintzen-Goldberg syndrome1 test
  • Shwachman syndrome1 test
  • Shwachman-Diamond syndrome 11 test
  • Shwachman-Diamond syndrome 21 test
  • Sialic acid storage disease, severe infantile type1 test
  • Sialidosis1 test
  • Sialidosis type 11 test
  • Sialuria1 test
  • Sick sinus syndrome 11 test
  • Sick sinus syndrome 2, autosomal dominant1 test
  • Sideroblastic anemia 22 tests
  • Sideroblastic anemia 32 tests
  • Simpson-Golabi-Behmel syndrome type 23 tests
  • Sjögren-Larsson syndrome1 test
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome1 test
  • Skin/hair/eye pigmentation, variation in, 11 test
  • Skin/hair/eye pigmentation, variation in, 21 test
  • Skin/hair/eye pigmentation, variation in, 41 test
  • SLC35A1-congenital disorder of glycosylation1 test
  • SLC35A2-congenital disorder of glycosylation2 tests
  • Small cell lung carcinoma1 test
  • Smith-Lemli-Opitz syndrome4 tests
  • Smith-Magenis syndrome1 test
  • Smith-McCort dysplasia 11 test
  • Snowflake vitreoretinal degeneration2 tests
  • Solitary median maxillary central incisor1 test
  • Somatotroph adenoma1 test
  • Sorsby fundus dystrophy1 test
  • Sotos syndrome 31 test
  • Spastic ataxia 11 test
  • Spastic ataxia 21 test
  • Spastic ataxia 32 tests
  • Spastic ataxia 41 test
  • Spastic ataxia 51 test
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1 test
  • Spastic ataxia 9, autosomal recessive1 test
  • Spastic paraplegia 52, autosomal recessive2 tests
  • Spasticity-ataxia-gait anomalies syndrome1 test
  • Specific granule deficiency 21 test
  • Spermatogenic failure 101 test
  • Spermatogenic failure 111 test
  • Spermatogenic failure 121 test
  • Spermatogenic failure 131 test
  • Spermatogenic failure 141 test
  • Spermatogenic failure 151 test
  • Spermatogenic failure 161 test
  • Spermatogenic failure 171 test
  • Spermatogenic failure 182 tests
  • Spermatogenic failure 191 test
  • Spermatogenic failure 201 test
  • Spermatogenic failure 211 test
  • Spermatogenic failure 221 test
  • Spermatogenic failure 231 test
  • Spermatogenic failure 241 test
  • Spermatogenic failure 251 test
  • Spermatogenic failure 261 test
  • Spermatogenic failure 271 test
  • Spermatogenic failure 281 test
  • Spermatogenic failure 291 test
  • Spermatogenic failure 31 test
  • Spermatogenic failure 301 test
  • Spermatogenic failure 311 test
  • Spermatogenic failure 321 test
  • Spermatogenic failure 331 test
  • Spermatogenic failure 341 test
  • Spermatogenic failure 351 test
  • Spermatogenic failure 361 test
  • Spermatogenic failure 371 test
  • Spermatogenic failure 381 test
  • Spermatogenic failure 41 test
  • Spermatogenic failure 71 test
  • Spermatogenic failure 81 test
  • Spermatogenic failure 91 test
  • Spermatogenic failure, X-linked, 21 test
  • Spermatogenic failure, Y-linked, 21 test
  • Spheroid body myopathy2 tests
  • Sphingolipid activator protein 1 deficiency2 tests
  • Spinal muscular atrophy1 test
  • Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1 test
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1 test
  • Spinocerebellar ataxia 431 test
  • Spinocerebellar ataxia 451 test
  • Spinocerebellar ataxia 461 test
  • Spinocerebellar ataxia 471 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 101 test
  • Spinocerebellar ataxia type 111 test
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 131 test
  • Spinocerebellar ataxia type 141 test
  • Spinocerebellar ataxia type 15/161 test
  • Spinocerebellar ataxia type 19/221 test
  • Spinocerebellar ataxia type 201 test
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 231 test
  • Spinocerebellar ataxia type 261 test
  • Spinocerebellar ataxia type 271 test
  • Spinocerebellar ataxia type 281 test
  • Spinocerebellar ataxia type 291 test
  • Spinocerebellar ataxia type 341 test
  • Spinocerebellar ataxia type 351 test
  • Spinocerebellar ataxia type 361 test
  • Spinocerebellar ataxia type 381 test
  • Spinocerebellar ataxia type 401 test
  • Spinocerebellar ataxia type 411 test
  • Spinocerebellar ataxia type 421 test
  • Spinocerebellar ataxia type 51 test
  • Spinocerebellar ataxia type 61 test
  • Spinocerebellar ataxia, autosomal recessive 221 test
  • Spinocerebellar ataxia, autosomal recessive 242 tests
  • Spinocerebellar ataxia, autosomal recessive 251 test
  • Spinocerebellar ataxia, autosomal recessive 261 test
  • Spinocerebellar ataxia, autosomal recessive 271 test
  • Spinocerebellar ataxia, autosomal recessive 281 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy1 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 31 test
  • Spondylocarpotarsal synostosis syndrome1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity1 test
  • Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
  • Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
  • Spondyloepimetaphyseal dysplasia, Missouri type1 test
  • Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome1 test
  • Spondyloepiphyseal dysplasia congenita2 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
  • Spondyloepiphyseal dysplasia, Stanescu type1 test
  • Spondylometaphyseal dysplasia2 tests
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome2 tests
  • Spondyloperipheral dysplasia2 tests
  • Spongy degeneration of central nervous system2 tests
  • SRD5A3-congenital disorder of glycosylation2 tests
  • SSR4-congenital disorder of glycosylation1 test
  • Stargardt disease 31 test
  • Stargardt disease 41 test
  • Statin causing adverse effect in therapeutic use1 test
  • Sterol carrier protein 2 deficiency1 test
  • Stickler syndrome type 13 tests
  • Stickler syndrome type 24 tests
  • Stickler syndrome, type 44 tests
  • Stickler syndrome, type 54 tests
  • Stickler syndrome, type I, nonsyndromic ocular1 test
  • Stiff skin syndrome1 test
  • Stormorken syndrome1 test
  • Stromme syndrome2 tests
  • Structural brain anomalies with impaired intellectual development and craniosynostosis1 test
  • STT3A-congenital disorder of glycosylation1 test
  • STT3B-congenital disorder of glycosylation1 test
  • Stuttering, familial persistent, 11 test
  • Stuve-Wiedemann syndrome1 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • Sulfite oxidase deficiency1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
  • Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
  • Supravalvar aortic stenosis2 tests
  • Susceptibility to mononeuropathy of the median nerve, mild1 test
  • Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
  • Syndromic microphthalmia type 53 tests
  • Syndromic X-linked intellectual disability Hedera type1 test
  • Syndromic X-linked intellectual disability Najm type4 tests
  • Syndromic X-linked intellectual disability Raymond type1 test
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency1 test
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
  • T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant1 test
  • Tall stature-scoliosis-macrodactyly of the great toes syndrome1 test
  • Tangier disease1 test
  • TARDBP-related frontotemporal dementia1 test
  • Tay-Sachs disease1 test
  • Tay-Sachs disease, b variant, adult form1 test
  • Tay-Sachs disease, variant AB1 test
  • TCF12-related craniosynostosis1 test
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • Temple-Baraitser syndrome1 test
  • Temtamy syndrome1 test
  • Terminal osseous dysplasia-pigmentary defects syndrome3 tests
  • Tetralogy of Fallot2 tests
  • Thanatophoric dysplasia type 13 tests
  • Thanatophoric dysplasia, type 23 tests
  • Thiel-Behnke corneal dystrophy1 test
  • Thrombocytopenia 11 test
  • Thrombocytopenia 21 test
  • Thrombocytopenia 41 test
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
  • Thrombomodulin-related bleeding disorder2 tests
  • Thrombophilia due to activated protein C resistance2 tests
  • Thrombophilia due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia due to protein C deficiency, autosomal recessive1 test
  • Thrombophilia due to protein S deficiency, autosomal dominant1 test
  • Thrombophilia due to protein S deficiency, autosomal recessive1 test
  • Thrombophilia, X-linked, due to factor 9 defect1 test
  • Thrombotic thrombocytopenic purpura1 test
  • Thyroglobulin synthesis defect3 tests
  • Thyroid cancer, nonmedullary, 22 tests
  • Thyroid dysgenesis1 test
  • Thyroid dyshormonogenesis 63 tests
  • Thyroid hormone metabolism, abnormal 13 tests
  • Thyroid hormone resistance, generalized, autosomal dominant3 tests
  • Thyroid hormone resistance, generalized, autosomal recessive3 tests
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • Thyrotropin-releasing hormone resistance, generalized1 test
  • Tibial muscular dystrophy3 tests
  • Timothy syndrome1 test
  • TMEM165-congenital disorder of glycosylation1 test
  • Torsion dystonia1 test
  • Torsion dystonia 21 test
  • Torsion dystonia 43 tests
  • Torsion dystonia 61 test
  • Transcobalamin I deficiency1 test
  • Transcobalamin II deficiency1 test
  • Transferrin serum level quantitative trait locus 21 test
  • Transient bullous dermolysis of the newborn1 test
  • Transient infantile hypertriglyceridemia and hepatosteatosis1 test
  • Treacher Collins syndrome 11 test
  • Treacher Collins syndrome 21 test
  • Treacher Collins syndrome 31 test
  • Tremor, hereditary essential, 41 test
  • Trichothiodystrophy1 test
  • Trichothiodystrophy 2, photosensitive1 test
  • Trichothiodystrophy 3, photosensitive1 test
  • Trichothiodystrophy 4, nonphotosensitive1 test
  • Triglyceride storage disease with ichthyosis2 tests
  • Trigonocephaly 11 test
  • Trigonocephaly 21 test
  • Troyer syndrome2 tests
  • Tuberous sclerosis 16 tests
  • Tuberous sclerosis 26 tests
  • Tubulointerstitial kidney disease, autosomal dominant, 21 test
  • Turcot syndrome3 tests
  • TWIST1-related craniosynostosis1 test
  • Type 1 diabetes mellitus 21 test
  • Type 1 diabetes mellitus 202 tests
  • Type II diabetes mellitus4 tests
  • Tyrosinase-positive oculocutaneous albinism1 test
  • Ullrich congenital muscular dystrophy 12 tests
  • Ullrich congenital muscular dystrophy 23 tests
  • Upshaw-Schulman syndrome1 test
  • Usher syndrome type 11 test
  • Usher syndrome type 1B1 test
  • Usher syndrome type 1C2 tests
  • Usher syndrome type 1D2 tests
  • Usher syndrome type 1F2 tests
  • Usher syndrome type 1G3 tests
  • Usher syndrome type 1J1 test
  • Usher syndrome type 2A3 tests
  • Usher syndrome type 2C3 tests
  • Usher syndrome type 2D2 tests
  • Usher syndrome type 35 tests
  • Usher syndrome type 3B3 tests
  • Usher syndrome, type 1D/F2 tests
  • Usher syndrome, type IIC, GPR98/PDZD7 digenic2 tests
  • Uveal coloboma-cleft lip and palate-intellectual disability1 test
  • VACTERL association, X-linked, with or without hydrocephalus1 test
  • Van Buchem disease type 23 tests
  • Van Maldergem syndrome 21 test
  • Vanishing white matter disease2 tests
  • Variegate porphyria2 tests
  • Vas deferens, congenital bilateral aplasia of, X-linked1 test
  • Velocardiofacial syndrome2 tests
  • Venous thrombosis, susceptibility to1 test
  • Ventricular fibrillation, paroxysmal familial, type 11 test
  • Ventricular septal defect 31 test
  • Very long chain acyl-CoA dehydrogenase deficiency3 tests
  • Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
  • Vitamin K-dependent clotting factors, combined deficiency of, type 21 test
  • Vitelliform macular dystrophy3 tests
  • Vitelliform macular dystrophy 11 test
  • Vitelliform macular dystrophy 42 tests
  • Von Hippel-Lindau syndrome5 tests
  • von Willebrand disease type 11 test
  • Von Willebrand disease type 2A1 test
  • Von Willebrand disease type 2B1 test
  • von Willebrand disease type 2M1 test
  • von Willebrand disease type 2N1 test
  • von Willebrand disease type 31 test
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 2A1 test
  • Waardenburg syndrome type 2D1 test
  • Waardenburg syndrome type 2E4 tests
  • Waardenburg syndrome type 4A1 test
  • Waardenburg syndrome type 4B1 test
  • Waardenburg syndrome type 4C4 tests
  • Wagner syndrome2 tests
  • Warburg micro syndrome 11 test
  • Warburg micro syndrome 21 test
  • Warburg micro syndrome 31 test
  • Warburg micro syndrome 41 test
  • Warburg-cinotti syndrome1 test
  • Warfarin response1 test
  • Warts, hypogammaglobulinemia, infections, and myelokathexis1 test
  • Weaver syndrome1 test
  • Weill-Marchesani 4 syndrome, recessive1 test
  • Weill-Marchesani syndrome 11 test
  • Weill-Marchesani syndrome 2, dominant1 test
  • Weill-Marchesani syndrome 31 test
  • Welander distal myopathy1 test
  • Werner syndrome1 test
  • Wiedemann-Steiner syndrome3 tests
  • Wilms tumor 12 tests
  • Wilms tumor 61 test
  • Wilson disease3 tests
  • Wiskott-Aldrich syndrome 21 test
  • Wolfram Syndrome-Like Disease1 test
  • Wolman disease1 test
  • Woodhouse-Sakati syndrome1 test
  • Worth disease2 tests
  • Wrinkly skin syndrome3 tests
  • X-linked Alport syndrome1 test
  • X-linked central congenital hypothyroidism with late-onset testicular enlargement1 test
  • X-linked chondrodysplasia punctata 11 test
  • X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome1 test
  • X-linked cone-rod dystrophy 14 tests
  • X-linked cone-rod dystrophy 33 tests
  • X-linked deafness1 test
  • X-linked distal spinal muscular atrophy type 31 test
  • X-linked dyserythropoetic anemia with abnormal platelets and neutropenia1 test
  • X-linked dystonia-parkinsonism2 tests
  • X-linked Emery-Dreifuss muscular dystrophy2 tests
  • X-linked epilepsy-learning disabilities-behavior disorders syndrome1 test
  • X-linked erythropoietic protoporphyria1 test
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1 test
  • X-linked intellectual disability Cabezas type1 test
  • X-linked intellectual disability, Cantagrel type1 test
  • X-linked intellectual disability-cerebellar hypoplasia syndrome2 tests
  • X-linked lissencephaly with abnormal genitalia1 test
  • X-linked mixed hearing loss with perilymphatic gusher1 test
  • X-linked myopathy with postural muscle atrophy1 test
  • X-linked progressive cerebellar ataxia1 test
  • X-linked scapuloperoneal muscular dystrophy1 test
  • X-linked sideroblastic anemia with ataxia2 tests
  • Xeroderma pigmentosum group A1 test
  • Xeroderma pigmentosum group B2 tests
  • Xeroderma pigmentosum, group C1 test
  • Xeroderma pigmentosum, group D2 tests
  • Xeroderma pigmentosum, group E1 test
  • Xeroderma pigmentosum, group F1 test
  • Xeroderma pigmentosum, group G1 test
  • Y chromosome-related disorders1 test
  • Yunis-Varon syndrome1 test
  • Zellweger spectrum disorders1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Custom microarray analysis
  • Carrier testing
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Result interpretation
  • Whole Exome Sequencing
  • Whole Genome Sequencing

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 99D2046227, Expiration date: 2022-12-12
  • ISO15189, Number: L259, Expiration date: 2023-04-16

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.