GTR Home > Laboratories > Laboratorio de Genetica Clinica SL

Laboratorio de Genetica Clinica SL

  • Laboratorio de Genetica Clinica SL, LabGenetics
  • Calle Poeta Rafael Morales, 2. Planta 2
  • San Sebastian de los Reyes, Madrid, Spain 28702
  • Phone: +34916592298
    Fax: +34916592299
    Email: info@labgenetics.com.es
  • Website: http://www.labgenetics.es/
  • Affiliated with:
    • Private center

GTR Lab ID: 505966, Last updated:2021-10-05

Personnel

Conditions and tests

  • 3 beta-Hydroxysteroid dehydrogenase deficiency1 test
  • 3 Methylcrotonyl-CoA carboxylase 1 deficiency1 test
  • 3-methylcrotonyl CoA carboxylase 2 deficiency1 test
  • 3-Methylglutaconic aciduria type 22 tests
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
  • 46,XX sex reversal, type 11 test
  • 46,XY sex reversal, type 11 test
  • 46,XY sex reversal, type 31 test
  • Aarskog syndrome1 test
  • Abetalipoproteinaemia3 tests
  • ABri amyloidosis1 test
  • Achondrogenesis type II1 test
  • Achondrogenesis, type IB1 test
  • Achondroplasia1 test
  • Achromatopsia1 test
  • Achromatopsia 21 test
  • Achromatopsia 31 test
  • Achromatopsia 41 test
  • Achromatopsia 71 test
  • Acne inversa, familial, 31 test
  • Acquired partial lipodystrophy1 test
  • Acro-dermato-ungual-lacrimal-tooth (adult) syndrome1 test
  • Acrocephalosyndactyly type I1 test
  • Acroerythrokeratoderma1 test
  • Acrokeratosis verruciformis of Hopf1 test
  • Acromesomelic dysplasia, Maroteaux type1 test
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
  • Acute intermittent porphyria1 test
  • Acute myeloid leukemia3 tests
  • Adams-Oliver syndrome1 test
  • Adams-Oliver syndrome 11 test
  • Adams-Oliver syndrome 21 test
  • Adams-Oliver syndrome 31 test
  • Adams-Oliver syndrome 41 test
  • Adams-Oliver syndrome 51 test
  • Adams-Oliver syndrome 61 test
  • ADan amyloidosis1 test
  • Adrenocortical carcinoma, hereditary1 test
  • Adrenoleukodystrophy1 test
  • Afibrinogenemia, congenital1 test
  • Agammaglobulinemia1 test
  • Agenesis of the corpus callosum with peripheral neuropathy1 test
  • Aicardi Goutieres syndrome1 test
  • Aicardi Goutieres syndrome 11 test
  • Aicardi Goutieres syndrome 21 test
  • Aicardi Goutieres syndrome 31 test
  • Aicardi Goutieres syndrome 41 test
  • Aicardi Goutieres syndrome 51 test
  • Aicardi-Goutieres syndrome 61 test
  • Aicardi-Goutieres syndrome 71 test
  • Alagille syndrome 11 test
  • Alagille syndrome 21 test
  • Albinism, ocular, with sensorineural deafness1 test
  • Albinism, oculocutaneous, type VII1 test
  • Alexander Disease1 test
  • ALG3-CDG1 test
  • Alkaptonuria1 test
  • Allan-Herndon-Dudley syndrome1 test
  • alpha Thalassemia1 test
  • Alpha thalassemia-X-linked intellectual disability syndrome1 test
  • Alpha-1-antitrypsin deficiency1 test
  • Alpha-B crystallinopathy1 test
  • Alport syndrome 1, X-linked recessive1 test
  • Alport syndrome 3, autosomal dominant1 test
  • Alport syndrome, autosomal recessive1 test
  • Alstrom syndrome1 test
  • Alternating hemiplegia of childhood 21 test
  • Alveolar capillary dysplasia with pulmonary venous misalignment1 test
  • Alzheimer disease3 tests
  • Alzheimer disease 22 tests
  • Alzheimer disease, type 32 tests
  • Alzheimer disease, type 42 tests
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyloidosis, primary localized cutaneous, 21 test
  • Amyotrophic lateral sclerosis2 tests
  • Amyotrophic lateral sclerosis 131 test
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia4 tests
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia2 tests
  • Amyotrophic lateral sclerosis 16, juvenile2 tests
  • Amyotrophic lateral sclerosis 173 tests
  • Amyotrophic lateral sclerosis 182 tests
  • Amyotrophic lateral sclerosis 191 test
  • Amyotrophic lateral sclerosis 201 test
  • Amyotrophic lateral sclerosis 211 test
  • Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia3 tests
  • Amyotrophic lateral sclerosis and/or frontotemporal dementia 11 test
  • Amyotrophic lateral sclerosis type 12 tests
  • Amyotrophic lateral sclerosis type 103 tests
  • Amyotrophic lateral sclerosis type 112 tests
  • Amyotrophic lateral sclerosis type 122 tests
  • Amyotrophic lateral sclerosis type 2, juvenile2 tests
  • Amyotrophic lateral sclerosis type 42 tests
  • Amyotrophic lateral sclerosis type 52 tests
  • Amyotrophic lateral sclerosis type 82 tests
  • Amyotrophic lateral sclerosis type 92 tests
  • Amyotrophic lateral sclerosis-parkinsonism-dementia complex1 test
  • Amyotrophy, hereditary neuralgic1 test
  • Andersen Tawil syndrome3 tests
  • Androgen resistance syndrome1 test
  • Anemia without thromobocytopenia, X-linked2 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
  • Angelman syndrome2 tests
  • Angioosteohypertrophic syndrome1 test
  • Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome1 test
  • Aniridia 11 test
  • Anophthalmia-microphthalmia syndrome1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome2 tests
  • Anterior segment dysgenesis 71 test
  • Antithrombin III deficiency1 test
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
  • Aortic aneurysm1 test
  • Aortic aneurysm, familial thoracic 42 tests
  • Aortic aneurysm, familial thoracic 62 tests
  • Aortic aneurysm, familial thoracic 72 tests
  • Aortic aneurysm, familial thoracic 81 test
  • Aortic aneurysm, familial thoracic 91 test
  • Aortic valve disease 11 test
  • Apolipoprotein C2 deficiency3 tests
  • Apparent mineralocorticoid excess2 tests
  • Aqueductal stenosis, X-linked, Hydrocephalus due to congenital stenosis of aqueduct of sylvius, X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius, X-linked hydrocephalus1 test
  • Arginase deficiency3 tests
  • Arginine:glycine amidinotransferase deficiency1 test
  • Argininosuccinate lyase deficiency3 tests
  • Aromatase deficiency1 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 102 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 112 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 122 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 52 tests
  • Arrhythmogenic right ventricular dysplasia 82 tests
  • Arrhythmogenic right ventricular dysplasia 93 tests
  • Arrhythmogenic right ventricular dysplasia, familial 12 tests
  • Arrhythmogenic right ventricular dysplasia, familial, 131 test
  • Arrhythmogenic right ventricular dysplasia, familial, 22 tests
  • Arterial tortuosity syndrome2 tests
  • Arthrogryposis multiplex congenita 2, neurogenic type1 test
  • Arthrogryposis, distal, type 2B12 tests
  • Arthrogryposis, distal, with impaired proprioception and touch2 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 12 tests
  • Arthrogryposis, renal dysfunction, and cholestasis 21 test
  • Asphyxiating thoracic dystrophy 21 test
  • Asphyxiating thoracic dystrophy 41 test
  • Asphyxiating thoracic dystrophy 51 test
  • At risk of osteoporosis1 test
  • Ataxia1 test
  • Ataxia, spastic, 1, autosomal dominant2 tests
  • Ataxia, spastic, 2, autosomal recessive2 tests
  • Ataxia, spastic, 3, autosomal recessive2 tests
  • Ataxia, spastic, 4, autosomal recessive2 tests
  • Ataxia-oculomotor apraxia 31 test
  • Ataxia-oculomotor apraxia 41 test
  • Ataxia-oculomotor apraxia type 11 test
  • Ataxia-telangiectasia syndrome1 test
  • Ataxia-telangiectasia variant1 test
  • Ataxia-telangiectasia-like disorder1 test
  • Ataxia-telangiectasia-like disorder 11 test
  • Ateleiotic dwarfism1 test
  • Atelosteogenesis type II1 test
  • Atrial fibrillation, familial, 141 test
  • Atrial septal defect 22 tests
  • Atrial septal defect 31 test
  • Atrial septal defect 42 tests
  • Atrial septal defect 51 test
  • Atrial septal defect 7 with or without atrioventricular conduction defects1 test
  • Atrial septal defect 82 tests
  • Atrichia with papular lesions1 test
  • Atrioventricular septal defect 21 test
  • Atrioventricular septal defect 42 tests
  • Atrophia bulborum hereditaria1 test
  • Atypical hemolytic uremic syndrome1 test
  • Atypical hemolytic-uremic syndrome 12 tests
  • Atypical hemolytic-uremic syndrome 22 tests
  • Atypical hemolytic-uremic syndrome 32 tests
  • Atypical hemolytic-uremic syndrome 41 test
  • Atypical hemolytic-uremic syndrome 52 tests
  • Atypical hemolytic-uremic syndrome 62 tests
  • Autism spectrum disorder1 test
  • Autoimmune lymphoproliferative syndrome2 tests
  • Autoimmune lymphoproliferative syndrome type 2B1 test
  • Autoimmune lymphoproliferative syndrome, type 2A1 test
  • Autosomal dominant distal renal tubular acidosis2 tests
  • Autosomal dominant hypophosphatemic rickets4 tests
  • Autosomal dominant isolated somatotropin deficiency1 test
  • Autosomal dominant medullary cystic kidney disease with hyperuricemia1 test
  • Autosomal dominant nocturnal frontal lobe epilepsy2 tests
  • Autosomal dominant non-syndromic sensorineural deafness type DFNA1 test
  • Autosomal dominant nonsyndromic deafness 171 test
  • Autosomal dominant nonsyndromic deafness 61 test
  • Autosomal dominant optic atrophy classic form1 test
  • Autosomal dominant osteopetrosis 21 test
  • Autosomal dominant polycystic kidney disease2 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 12 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 22 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 32 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 42 tests
  • Autosomal dominant pseudohypoaldosteronism type 11 test
  • Autosomal dominant torsion dystonia 41 test
  • Autosomal hypohidrotic ectodermal dysplasia1 test
  • Autosomal recessive axonal neuropathy with neuromyotonia1 test
  • Autosomal recessive congenital ichthyosis 12 tests
  • Autosomal recessive congenital ichthyosis 101 test
  • Autosomal recessive congenital ichthyosis 22 tests
  • Autosomal recessive congenital ichthyosis 32 tests
  • Autosomal recessive congenital ichthyosis 4A2 tests
  • Autosomal recessive congenital ichthyosis 4B1 test
  • Autosomal recessive congenital ichthyosis 52 tests
  • Autosomal recessive congenital ichthyosis 62 tests
  • Autosomal recessive congenital ichthyosis 81 test
  • Autosomal recessive congenital ichthyosis 91 test
  • Autosomal recessive cutis laxa type 1B2 tests
  • Autosomal recessive cutis laxa type 2B2 tests
  • Autosomal recessive cutis laxa type 3B2 tests
  • Autosomal recessive cutis laxa type IA2 tests
  • Autosomal recessive DOPA responsive dystonia1 test
  • Autosomal recessive hypophosphatemic bone disease4 tests
  • Autosomal recessive hypophosphatemic vitamin D refractory rickets4 tests
  • Autosomal recessive Kenny-Caffey syndrome1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2B2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2D2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2E2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2F2 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2G2 tests
  • Autosomal recessive osteopetrosis 12 tests
  • Autosomal recessive osteopetrosis 22 tests
  • Autosomal recessive osteopetrosis 42 tests
  • Autosomal recessive osteopetrosis 62 tests
  • Autosomal recessive osteopetrosis 72 tests
  • Autosomal recessive polycystic kidney disease2 tests
  • Autosomal recessive pseudohypoaldosteronism type 11 test
  • Autosomal recessive spondylocostal dysostosis2 tests
  • Avellino corneal dystrophy1 test
  • Axenfeld-Rieger syndrome type 11 test
  • Axenfeld-Rieger syndrome type 31 test
  • Azorean disease1 test
  • Baller-Gerold syndrome1 test
  • Bamforth-Lazarus syndrome1 test
  • Bannayan-Riley-Ruvalcaba syndrome1 test
  • Baraitser-Winter Syndrome 22 tests
  • Bardet-Biedl syndrome2 tests
  • Bardet-Biedl syndrome 102 tests
  • Bardet-Biedl syndrome 112 tests
  • Bardet-Biedl syndrome 122 tests
  • Bardet-Biedl syndrome 132 tests
  • Bardet-Biedl syndrome 142 tests
  • Bardet-Biedl syndrome 151 test
  • Bardet-Biedl syndrome 161 test
  • Bardet-Biedl syndrome 171 test
  • Bardet-Biedl syndrome 181 test
  • Bardet-Biedl syndrome 191 test
  • Bardet-Biedl syndrome 22 tests
  • Bardet-Biedl syndrome 42 tests
  • Bardet-Biedl syndrome 52 tests
  • Bardet-Biedl syndrome 72 tests
  • Bardet-Biedl syndrome 82 tests
  • Bardet-Biedl syndrome 92 tests
  • Bare lymphocyte syndrome 22 tests
  • Bare lymphocyte syndrome type 12 tests
  • Bartsocas-Papas syndrome1 test
  • Bartter disease type 4a1 test
  • Bartter syndrome1 test
  • Bartter syndrome type 31 test
  • Bartter syndrome, type 1, antenatal1 test
  • Bartter syndrome, type 2, antenatal1 test
  • Basal ganglia calcification, idiopathic, 41 test
  • Basal ganglia calcification, idiopathic, 61 test
  • Beckwith-Wiedemann syndrome1 test
  • Benign familial neonatal seizures 11 test
  • Benign familial neonatal seizures 22 tests
  • Benign hereditary chorea1 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy3 tests
  • Bernard Soulier syndrome1 test
  • Bernard-Soulier syndrome, type A2, autosomal dominant1 test
  • beta Thalassemia1 test
  • Beta-D-mannosidosis1 test
  • Bethlem myopathy 12 tests
  • Bethlem myopathy 21 test
  • Bilateral right-sidedness sequence1 test
  • Biotin-responsive basal ganglia disease1 test
  • Biotinidase deficiency2 tests
  • Birk-Barel syndrome1 test
  • Blau syndrome1 test
  • Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
  • Blepharophimosis, ptosis, and epicanthus inversus1 test
  • Bloom syndrome1 test
  • Body mass index quantitative trait locus 91 test
  • Bone osteosarcoma1 test
  • Borjeson-Forssman-Lehmann syndrome2 tests
  • Brachydactyly type A11 test
  • Brachydactyly type A21 test
  • Brachydactyly type B11 test
  • Brachydactyly type B21 test
  • Brachydactyly type C1 test
  • Brachydactyly type D1 test
  • Brachydactyly type E11 test
  • Brachydactyly type E22 tests
  • Brachydactyly, type a1, c1 test
  • Branchiooculofacial syndrome1 test
  • Branchiootic syndrome 31 test
  • Branchiootorenal Syndrome 11 test
  • Branchiootorenal syndrome 21 test
  • Breast-ovarian cancer, familial 11 test
  • Breast-ovarian cancer, familial 21 test
  • Breast-ovarian cancer, familial 31 test
  • Brittle cornea syndrome 11 test
  • Brittle cornea syndrome 21 test
  • Brown-Vialetto-Van Laere syndrome 11 test
  • Brown-Vialetto-Van Laere syndrome 21 test
  • Bruck syndrome 11 test
  • Bruck syndrome 21 test
  • Brugada syndrome1 test
  • Brugada syndrome 12 tests
  • Brugada syndrome 22 tests
  • Brugada syndrome 32 tests
  • Brugada syndrome 42 tests
  • Brugada syndrome 52 tests
  • Brugada syndrome 62 tests
  • Brugada syndrome 72 tests
  • Brugada syndrome 81 test
  • Brugada syndrome 91 test
  • Bullous ichthyosiform erythroderma3 tests
  • Butyrylcholinesterase deficiency, fluoride-resistant, japanese type1 test
  • C3 deficiency1 test
  • Camptomelic dysplasia1 test
  • Capillary malformation without arteriovenous malformation1 test
  • Capillary malformation-arteriovenous malformation1 test
  • Capillary malformation-arteriovenous malformation 21 test
  • CARASIL syndrome1 test
  • Carcinoma of pancreas1 test
  • Cardiac valvular dysplasia, X-linked1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency3 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
  • Cardiofaciocutaneous syndrome 11 test
  • Cardiofaciocutaneous syndrome 21 test
  • Cardiofaciocutaneous syndrome 32 tests
  • Cardiofaciocutaneous syndrome 41 test
  • Cardiomyopathy, dilated, 1NN1 test
  • Cardiomyopathy, dilated, 1u1 test
  • Cardiomyopathy, dilated, 2b1 test
  • Cardiomyopathy, familial hypertrophic, 261 test
  • Cardiomyopathy, left ventricular noncompaction1 test
  • Carney complex, type 11 test
  • Carney-Stratakis syndrome1 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyltransferase 1A deficiency1 test
  • Carnitine palmitoyltransferase II deficiency, infantile1 test
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal1 test
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced1 test
  • Carpenter syndrome 11 test
  • Carpenter syndrome 21 test
  • Cataract 23, multiple types1 test
  • Catecholaminergic polymorphic ventricular tachycardia type 12 tests
  • Central core myopathy1 test
  • Centronuclear myopathy1 test
  • Cerebellar ataxia, Cayman type1 test
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant1 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 11 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 21 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 32 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 41 test
  • Cerebellar ataxia, nonprogressive, with mental retardation1 test
  • Cerebellar hemangioblastoma1 test
  • Cerebral amyloid angiopathy, APP-related1 test
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11 test
  • Cerebral cavernous malformation1 test
  • Cerebro-costo-mandibular syndrome1 test
  • Cerebroretinal microangiopathy with calcifications and cysts1 test
  • Ceroid lipofuscinosis neuronal 21 test
  • CFHR5 deficiency1 test
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease and deafness1 test
  • Charcot-Marie-Tooth disease axonal type 2C2 tests
  • Charcot-Marie-Tooth disease axonal type 2F2 tests
  • Charcot-Marie-Tooth disease axonal type 2K2 tests
  • Charcot-Marie-Tooth disease type 2B2 tests
  • Charcot-Marie-Tooth disease type 2B12 tests
  • Charcot-Marie-Tooth disease type 2B22 tests
  • Charcot-Marie-Tooth disease type 2D2 tests
  • Charcot-Marie-Tooth disease type 2E2 tests
  • Charcot-Marie-Tooth disease type 2I2 tests
  • Charcot-Marie-Tooth disease type 2J2 tests
  • Charcot-Marie-Tooth disease type 2P1 test
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2O1 test
  • Charcot-Marie-Tooth disease, axonal, type 2T1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1b2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1d3 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1f2 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 4F2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate B1 test
  • Charcot-Marie-Tooth disease, dominant intermediate C1 test
  • Charcot-Marie-Tooth disease, dominant intermediate E1 test
  • Charcot-Marie-Tooth disease, recessive intermediate B1 test
  • Charcot-Marie-Tooth disease, type 1C2 tests
  • Charcot-Marie-Tooth disease, type 2A12 tests
  • Charcot-Marie-Tooth disease, type 2A2A2 tests
  • Charcot-Marie-Tooth disease, type 2L2 tests
  • Charcot-Marie-Tooth disease, type 2N1 test
  • Charcot-Marie-Tooth disease, type 4A2 tests
  • Charcot-Marie-Tooth disease, type 4B12 tests
  • Charcot-Marie-Tooth disease, type 4B22 tests
  • Charcot-Marie-Tooth disease, type 4B31 test
  • Charcot-Marie-Tooth disease, type 4C2 tests
  • Charcot-Marie-Tooth disease, type 4D2 tests
  • Charcot-Marie-Tooth disease, type 4H2 tests
  • Charcot-Marie-Tooth disease, type 4J2 tests
  • Charcot-Marie-Tooth disease, type IA1 test
  • Charcot-Marie-Tooth disease, X-linked dominant, 61 test
  • Charcot-Marie-Tooth disease, X-linked recessive, type 51 test
  • Charcot-Marie-Tooth Neuropathy X1 test
  • Charcot-Marie-Tooth Neuropathy X Type 12 tests
  • CHARGE association1 test
  • Charlevoix-Saguenay spastic ataxia2 tests
  • Child syndrome1 test
  • Childhood hypophosphatasia1 test
  • Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1 test
  • Chitotriosidase deficiency1 test
  • Cholestanol storage disease1 test
  • Cholestasis, progressive familial intrahepatic 12 tests
  • Cholesterol monooxygenase (side-chain cleaving) deficiency1 test
  • Chondrodysplasia punctata 2 X-linked dominant1 test
  • Choreoacanthocytosis2 tests
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress1 test
  • Choroideremia1 test
  • Christianson syndrome1 test
  • Chromosome 2q32-q33 deletion syndrome1 test
  • Chronic granulomatous disease1 test
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 11 test
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21 test
  • Chronic granulomatous disease, X-linked1 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chronic mucocutaneous candidiasis1 test
  • Chronic myelogenous leukemia, BCR-ABL1 positive1 test
  • Chédiak-Higashi syndrome2 tests
  • Ciliary dyskinesia, primary, 131 test
  • Ciliary dyskinesia, primary, 141 test
  • Ciliary dyskinesia, primary, 151 test
  • Ciliary dyskinesia, primary, 191 test
  • Ciliary dyskinesia, primary, 31 test
  • Ciliary dyskinesia, primary, 71 test
  • Ciliary dyskinesia, primary, 91 test
  • Citrullinemia type I3 tests
  • Citrullinemia type II2 tests
  • CK syndrome1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Classic homocystinuria1 test
  • Cleft lip/palate-ectodermal dysplasia syndrome1 test
  • Cleidocranial dysostosis1 test
  • Cobalamin C disease3 tests
  • Cockayne syndrome1 test
  • Cockayne syndrome B1 test
  • Cockayne syndrome type A1 test
  • Coenzyme Q10 deficiency, primary 11 test
  • Coenzyme Q10 deficiency, primary, 41 test
  • Coffin-Lowry syndrome1 test
  • Coffin-Siris syndrome 11 test
  • Coffin-Siris syndrome 51 test
  • COG1 congenital disorder of glycosylation1 test
  • Cohen syndrome1 test
  • Cold-induced sweating syndrome 12 tests
  • Cold-induced sweating syndrome 22 tests
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome2 tests
  • Colorectal cancer3 tests
  • Combined immunodeficiency due to ORAI1 deficiency1 test
  • Combined immunodeficiency due to STIM1 deficiency1 test
  • Combined immunodeficiency due to ZAP70 deficiency1 test
  • Combined immunodeficiency, X-linked1 test
  • Combined malonic and methylmalonic aciduria1 test
  • Combined T and B cell immunodeficiency1 test
  • Common variable agammaglobulinemia1 test
  • Common variable immunodeficiency 11 test
  • Common variable immunodeficiency 21 test
  • Common variable immunodeficiency 31 test
  • Common variable immunodeficiency 41 test
  • Common variable immunodeficiency 51 test
  • Common variable immunodeficiency 61 test
  • Complement component 2 deficiency1 test
  • Complement component 9 deficiency1 test
  • Complement component c1s deficiency1 test
  • Complement factor B deficiency1 test
  • Cone dystrophy 31 test
  • Cone dystrophy 41 test
  • Cone-rod dystrophy1 test
  • Cone-rod dystrophy 21 test
  • Cone-rod dystrophy 31 test
  • Cone-rod dystrophy 61 test
  • Cone-rod dystrophy, X-linked 11 test
  • Congenital absence of salivary gland1 test
  • Congenital adrenal hypoplasia, X-linked1 test
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital anomalies of kidney and urinary tract1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
  • Congenital central hypoventilation2 tests
  • Congenital contractural arachnodactyly2 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
  • Congenital disorder of glycosylation type 1C1 test
  • Congenital disorder of glycosylation type 1t1 test
  • Congenital disorder of glycosylation, type Ia2 tests
  • Congenital dyserythropoietic anemia1 test
  • Congenital dyserythropoietic anemia type type 1B1 test
  • Congenital dyserythropoietic anemia, type I1 test
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital dyserythropoietic anemia, type III1 test
  • Congenital dyserythropoietic anemia, type IV1 test
  • Congenital fibrosis of extraocular muscles1 test
  • Congenital generalized lipodystrophy1 test
  • Congenital generalized lipodystrophy type 11 test
  • Congenital generalized lipodystrophy type 21 test
  • Congenital glucose-galactose malabsorption1 test
  • Congenital heart defects2 tests
  • Congenital heart defects, multiple types, 21 test
  • Congenital hyperammonemia, type I3 tests
  • Congenital hypomyelinating neuropathy 1, autosomal recessive1 test
  • Congenital hypothyroidism2 tests
  • Congenital hypotrichosis with juvenile macular dystrophy1 test
  • Congenital ichthyosis of skin1 test
  • Congenital lactase deficiency1 test
  • Congenital microvillous atrophy1 test
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A51 test
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A21 test
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A42 tests
  • Congenital muscular hypertrophy-cerebral syndrome2 tests
  • Congenital myasthenic syndrome3 tests
  • Congenital myasthenic syndrome 1B, fast-channel2 tests
  • Congenital myasthenic syndrome 3B1 test
  • Congenital myasthenic syndrome 4C1 test
  • Congenital myopathy with fiber type disproportion1 test
  • Congenital neutropenia1 test
  • Congenital ocular coloboma1 test
  • Congenital plasminogen activator inhibitor type 1 deficiency1 test
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Congenital stationary night blindness1 test
  • Congenital stationary night blindness, autosomal dominant 11 test
  • Congenital stationary night blindness, autosomal dominant 21 test
  • Congenital stationary night blindness, autosomal dominant 31 test
  • Congenital stationary night blindness, type 1A1 test
  • Congenital stationary night blindness, type 1B1 test
  • Congenital stationary night blindness, type 1C1 test
  • Congenital stationary night blindness, type 1D1 test
  • Congenital stationary night blindness, type 2A1 test
  • Congenital stationary night blindness, type 2B1 test
  • Conotruncal heart malformations3 tests
  • Contractures, pterygia, and variable skeletal fusions syndrome 1A1 test
  • Cornelia de Lange syndrome 12 tests
  • Cornelia de Lange syndrome 32 tests
  • Cornelia de Lange syndrome 42 tests
  • Cornelia de Lange syndrome 52 tests
  • Corpus callosum agenesis-abnormal genitalia syndrome1 test
  • Corpus callosum, partial agenesis of, X-linked1 test
  • Corticosterone 18-monooxygenase deficiency2 tests
  • Corticosterone methyloxidase type 2 deficiency1 test
  • Cortisone reductase deficiency 11 test
  • Cortisone reductase deficiency 21 test
  • Costello syndrome1 test
  • Cowden syndrome1 test
  • Cowden syndrome 11 test
  • Cowden syndrome 51 test
  • Cowden syndrome 61 test
  • Craniodiaphyseal dysplasia, autosomal dominant1 test
  • Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome1 test
  • Craniofrontonasal syndrome1 test
  • Craniosynostosis 11 test
  • Craniosynostosis 21 test
  • Craniosynostosis syndrome1 test
  • Creatine transporter deficiency2 tests
  • Creutzfeldt-Jakob Disease, Familial1 test
  • Crigler-Najjar syndrome1 test
  • Crigler-Najjar syndrome, type II1 test
  • Crouzon syndrome1 test
  • Crouzon syndrome with acanthosis nigricans1 test
  • Cutaneous malignant melanoma 21 test
  • Cutaneous malignant melanoma 31 test
  • Cutaneous malignant melanoma 51 test
  • Cutis laxa1 test
  • Cutis laxa with osteodystrophy1 test
  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities1 test
  • Cutis laxa, autosomal dominant1 test
  • Cutis laxa, autosomal dominant 11 test
  • Cutis laxa, autosomal dominant 21 test
  • Cutis laxa, autosomal dominant 31 test
  • Cutis laxa, autosomal recessive1 test
  • Cutis laxa, autosomal recessive IIIA1 test
  • Cutis laxa, X-linked2 tests
  • Cyclical neutropenia2 tests
  • Cylindromatosis, familial1 test
  • Cystic fibrosis1 test
  • Cystinuria2 tests
  • Dalmatian hypouricemia1 test
  • Danon disease3 tests
  • Deafness dystonia syndrome1 test
  • Deafness, autosomal dominant 121 test
  • Deafness, autosomal dominant 131 test
  • Deafness, autosomal dominant 201 test
  • Deafness, autosomal dominant 231 test
  • Deafness, autosomal dominant 2b1 test
  • Deafness, autosomal dominant 3a1 test
  • Deafness, autosomal dominant 3b1 test
  • Deafness, autosomal dominant 91 test
  • Deafness, autosomal recessive 121 test
  • Deafness, autosomal recessive 161 test
  • Deafness, autosomal recessive 181 test
  • Deafness, autosomal recessive 1A1 test
  • Deafness, autosomal recessive 21 test
  • Deafness, autosomal recessive 231 test
  • Deafness, autosomal recessive 31 test
  • Deafness, autosomal recessive 4, with enlarged vestibular aqueduct1 test
  • Deafness, autosomal recessive 591 test
  • Deafness, autosomal recessive 71 test
  • Deafness, autosomal recessive 81 test
  • Deafness, autosomal recessive 84b1 test
  • Deafness, autosomal recessive 92 tests
  • Deafness, X-linked 21 test
  • Deficiency of acetyl-CoA acetyltransferase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of ferroxidase2 tests
  • Deficiency of galactokinase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of hyaluronoglucosaminidase2 tests
  • Deficiency of hydroxymethylglutaryl-CoA lyase1 test
  • Deficiency of iodide peroxidase2 tests
  • Deficiency of isobutyryl-CoA dehydrogenase1 test
  • Deficiency of malonyl-CoA decarboxylase2 tests
  • Deficiency of pyrroline-5-carboxylate reductase1 test
  • Deficiency of steroid 17-alpha-monooxygenase1 test
  • Deficiency of transaldolase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Dejerine-Sottas disease3 tests
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency1 test
  • Dent disease type 11 test
  • Dent disease type 21 test
  • Dentatorubral-pallidoluysian atrophy1 test
  • Dentinogenesis imperfecta type 21 test
  • Dentinogenesis imperfecta type 31 test
  • Dermatofibrosis lenticularis disseminata1 test
  • Developmental and epileptic encephalopathy, 251 test
  • Diabetes insipidus, neurohypophyseal type1 test
  • Diabetes mellitus type 11 test
  • Diabetes mellitus, neonatal, with congenital hypothyroidism1 test
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis1 test
  • Diamond-Blackfan anemia2 tests
  • Diamond-Blackfan anemia 12 tests
  • Diamond-Blackfan anemia 102 tests
  • Diamond-Blackfan anemia 111 test
  • Diamond-Blackfan anemia 121 test
  • Diamond-Blackfan anemia 131 test
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis1 test
  • Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1 test
  • Diamond-Blackfan anemia 161 test
  • Diamond-Blackfan anemia 171 test
  • Diamond-Blackfan anemia 32 tests
  • Diamond-Blackfan anemia 42 tests
  • Diamond-Blackfan anemia 52 tests
  • Diamond-Blackfan anemia 62 tests
  • Diamond-Blackfan anemia 72 tests
  • Diamond-Blackfan anemia 81 test
  • Diamond-Blackfan anemia 92 tests
  • Diaphragmatic hernia 31 test
  • Diaphyseal dysplasia1 test
  • Diarrhea 4, malabsorptive, congenital1 test
  • Diarrhea 5, with tufting enteropathy, congenital1 test
  • Diastrophic dysplasia1 test
  • DiGeorge Syndrome1 test
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy 1A2 tests
  • Dilated cardiomyopathy 1AA2 tests
  • Dilated cardiomyopathy 1BB1 test
  • Dilated cardiomyopathy 1C2 tests
  • Dilated cardiomyopathy 1CC1 test
  • Dilated cardiomyopathy 1DD1 test
  • Dilated cardiomyopathy 1E1 test
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1HH1 test
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1II1 test
  • Dilated cardiomyopathy 1J1 test
  • Dilated cardiomyopathy 1JJ1 test
  • Dilated cardiomyopathy 1KK1 test
  • Dilated cardiomyopathy 1L1 test
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R1 test
  • Dilated cardiomyopathy 1S2 tests
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1X1 test
  • Dilated cardiomyopathy 1Y1 test
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 3B1 test
  • Dilated cardiomyopathy with woolly hair and keratoderma1 test
  • Disorder due cytochrome p450 CYP2D6 variant1 test
  • Distal arthrogryposis1 test
  • Distal arthrogryposis type 1A1 test
  • Distal arthrogryposis type 1B2 tests
  • Distal arthrogryposis type 5D2 tests
  • Distal hereditary motor neuronopathy2 tests
  • Distal hereditary motor neuronopathy type 51 test
  • Distal spinal muscular atrophy1 test
  • Distal spinal muscular atrophy, autosomal recessive 41 test
  • Distichiasis-lymphedema syndrome1 test
  • Donnai-Barrow syndrome1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
  • Drash syndrome1 test
  • Duane-radial ray syndrome1 test
  • Dubin-Johnson syndrome1 test
  • Dubowitz syndrome1 test
  • Duchenne muscular dystrophy1 test
  • Dyschromatosis universalis hereditaria1 test
  • Dysequilibrium syndrome1 test
  • Dysfibrinogenemia, congenital1 test
  • Dyskeratosis congenita2 tests
  • Dyskeratosis congenita autosomal recessive 11 test
  • Dyskeratosis congenita, autosomal dominant 11 test
  • Dyskeratosis congenita, autosomal dominant, 21 test
  • Dyskeratosis congenita, autosomal dominant, 31 test
  • Dyskeratosis congenita, autosomal dominant, 41 test
  • Dyskeratosis congenita, autosomal recessive 21 test
  • Dyskeratosis congenita, autosomal recessive, 31 test
  • Dyskeratosis congenita, autosomal recessive, 51 test
  • Dyskeratosis congenita, X-linked1 test
  • Dystonia1 test
  • Dystonia 11 test
  • Dystonia 121 test
  • Dystonia 161 test
  • Dystonia 231 test
  • Dystonia 241 test
  • Dystonia 251 test
  • Dystonia 271 test
  • Dystonia 54 tests
  • Dystonia 91 test
  • Dystrophic epidermolysis bullosa2 tests
  • Early infantile epileptic encephalopathy 101 test
  • Early infantile epileptic encephalopathy 112 tests
  • Early infantile epileptic encephalopathy 121 test
  • Early infantile epileptic encephalopathy 131 test
  • Early infantile epileptic encephalopathy 171 test
  • Early infantile epileptic encephalopathy 23 tests
  • Early infantile epileptic encephalopathy 211 test
  • Early infantile epileptic encephalopathy 42 tests
  • Early infantile epileptic encephalopathy 52 tests
  • Early infantile epileptic encephalopathy 73 tests
  • Early infantile epileptic encephalopathy 83 tests
  • Early infantile epileptic encephalopathy 92 tests
  • Early myoclonic encephalopathy2 tests
  • Ectodermal dysplasia and immunodeficiency 21 test
  • Ectopia lentis2 tests
  • Ectopia lentis, isolated, autosomal dominant1 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 11 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 31 test
  • Ehlers-Danlos syndrome dermatosparaxis type2 tests
  • Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss2 tests
  • Ehlers-Danlos syndrome, arthrochalasia type, 12 tests
  • Ehlers-Danlos syndrome, classic type3 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient2 tests
  • Ehlers-Danlos syndrome, musculocontractural type2 tests
  • Ehlers-Danlos syndrome, musculocontractural type 22 tests
  • Ehlers-Danlos syndrome, progeroid type, 22 tests
  • Ehlers-Danlos syndrome, spondylodysplastic type, 12 tests
  • Ehlers-Danlos syndrome, type 42 tests
  • Ehlers-Danlos syndrome, type 4 variant1 test
  • Eichsfeld type congenital muscular dystrophy1 test
  • Ellis-van Creveld syndrome1 test
  • Emery-Dreifuss muscular dystrophy 1, X-linked1 test
  • Encephalopathy, acute, infection-induced, 3, suceptibility to1 test
  • Enchondromatosis1 test
  • Enhanced S-cone syndrome1 test
  • Epidermolysis bullosa2 tests
  • Epidermolysis bullosa dystrophica, autosomal recessive, modifier of1 test
  • Epidermolysis bullosa junctionalis with pyloric atresia2 tests
  • Epidermolysis bullosa pruriginosa1 test
  • Epidermolysis bullosa simplex2 tests
  • Epidermolysis bullosa simplex Dowling-Meara type2 tests
  • Epidermolysis bullosa simplex due to plakophilin deficiency2 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema1 test
  • Epidermolysis bullosa simplex with mottled pigmentation1 test
  • Epidermolysis bullosa simplex with muscular dystrophy1 test
  • Epidermolysis bullosa simplex with nail dystrophy1 test
  • Epidermolysis bullosa simplex with pyloric atresia2 tests
  • Epidermolysis bullosa simplex, autosomal recessive1 test
  • Epidermolysis bullosa simplex, autosomal recessive 21 test
  • Epidermolysis bullosa simplex, generalized, with scarring and hair loss1 test
  • Epidermolysis bullosa simplex, Koebner type2 tests
  • Epidermolysis bullosa simplex, Ogna type1 test
  • Epidermolysis bullosa, nonspecific, autosomal recessive1 test
  • Epidermolytic palmoplantar keratoderma1 test
  • Epilepsy1 test
  • Epilepsy, idiopathic generalized 91 test
  • Epilepsy, idiopathic generalized, susceptibility to, 111 test
  • Epilepsy, juvenile myoclonic 51 test
  • Epilepsy, nocturnal frontal lobe, type 11 test
  • Epilepsy, nocturnal frontal lobe, type 31 test
  • Epilepsy, nocturnal frontal lobe, type 41 test
  • Epilepsy, progressive myoclonic 31 test
  • Epilepsy, progressive myoclonic 4, with or without renal failure1 test
  • Epileptic encephalopathy, early infantile, 15 tests
  • Epileptic encephalopathy, early infantile, 241 test
  • Epileptic encephalopathy, early infantile, 261 test
  • Epiphyseal dysplasia, multiple, 21 test
  • Epiphyseal dysplasia, multiple, 31 test
  • Episodic ataxia1 test
  • Episodic ataxia type 12 tests
  • Episodic ataxia type 21 test
  • Episodic ataxia, type 51 test
  • Episodic ataxia, type 61 test
  • Episodic kinesigenic dyskinesia 11 test
  • Episodic pain syndrome, familial, 21 test
  • Episodic pain syndrome, familial, 31 test
  • Erythrocyte AMP deaminase deficiency1 test
  • Erythrocytosis, familial, 31 test
  • Erythrocytosis, familial, 41 test
  • Erythrokeratodermia variabilis et progressiva 11 test
  • Erythrokeratodermia variabilis et progressiva 21 test
  • Exercise intolerance, riboflavin-responsive1 test
  • Exudative retinopathy1 test
  • Exudative vitreoretinopathy 11 test
  • Exudative vitreoretinopathy 41 test
  • Exudative vitreoretinopathy 51 test
  • Fabry disease1 test
  • Factor H deficiency2 tests
  • Factor V deficiency1 test
  • Factor VII deficiency1 test
  • Factor XII deficiency disease2 tests
  • Factor XIII, A subunit, deficiency of1 test
  • Factor XIII, b subunit, deficiency of1 test
  • Familial adenomatous polyposis 11 test
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial atrial myxoma1 test
  • Familial benign pemphigus1 test
  • Familial cancer of breast1 test
  • Familial cold autoinflammatory syndrome1 test
  • Familial cold autoinflammatory syndrome 11 test
  • Familial dysautonomia1 test
  • Familial episodic pain syndrome1 test
  • Familial exudative vitreoretinopathy, autosomal dominant1 test
  • Familial exudative vitreoretinopathy, X-linked2 tests
  • Familial febrile seizures 81 test
  • Familial hemiplegic migraine2 tests
  • Familial hemophagocytic lymphohistiocytosis1 test
  • Familial hemophagocytic lymphohistiocytosis 21 test
  • Familial hemophagocytic lymphohistiocytosis 31 test
  • Familial hemophagocytic lymphohistiocytosis 41 test
  • Familial hypercholesterolemia2 tests
  • Familial hypercholesterolemia 21 test
  • Familial hypercholesterolemia 32 tests
  • Familial hyperinsulinism1 test
  • Familial hyperkalemic periodic paralysis1 test
  • Familial hypertriglyceridemia2 tests
  • Familial hypertrophic cardiomyopathy 11 test
  • Familial hypertrophic cardiomyopathy 102 tests
  • Familial hypertrophic cardiomyopathy 111 test
  • Familial hypertrophic cardiomyopathy 121 test
  • Familial hypertrophic cardiomyopathy 131 test
  • Familial hypertrophic cardiomyopathy 142 tests
  • Familial hypertrophic cardiomyopathy 151 test
  • Familial hypertrophic cardiomyopathy 171 test
  • Familial hypertrophic cardiomyopathy 181 test
  • Familial hypertrophic cardiomyopathy 21 test
  • Familial hypertrophic cardiomyopathy 201 test
  • Familial hypertrophic cardiomyopathy 31 test
  • Familial hypertrophic cardiomyopathy 41 test
  • Familial hypertrophic cardiomyopathy 61 test
  • Familial hypertrophic cardiomyopathy 71 test
  • Familial hypertrophic cardiomyopathy 82 tests
  • Familial hypertrophic cardiomyopathy 91 test
  • Familial hypobetalipoproteinemia1 test
  • Familial hypokalemia-hypomagnesemia2 tests
  • Familial idiopathic steroid-resistant nephrotic syndrome1 test
  • Familial infantile myasthenia1 test
  • Familial isolated arrhythmogenic right ventricular dysplasia1 test
  • Familial isolated deficiency of vitamin E2 tests
  • Familial isolated hypoparathyroidism1 test
  • Familial juvenile hyperuricemic nephropathy type 11 test
  • Familial Mediterranean fever2 tests
  • Familial mediterranean fever, autosomal dominant1 test
  • Familial medullary thyroid carcinoma1 test
  • Familial multiple polyposis syndrome1 test
  • Familial partial lipodystrophy1 test
  • Familial partial lipodystrophy 21 test
  • Familial partial lipodystrophy 31 test
  • Familial platelet disorder with associated myeloid malignancy1 test
  • Familial porencephaly1 test
  • Familial porphyria cutanea tarda1 test
  • Familial renal glucosuria1 test
  • Familial temporal lobe epilepsy 12 tests
  • Familial thoracic aortic aneurysm and aortic dissection2 tests
  • Familial type 3 hyperlipoproteinemia1 test
  • Familial type 5 hyperlipoproteinemia1 test
  • Familial visceral amyloidosis, Ostertag type1 test
  • Familial X-linked hypophosphatemic vitamin D refractory rickets4 tests
  • Fanconi anemia1 test
  • Fanconi anemia, complementation group A2 tests
  • Fanconi anemia, complementation group B1 test
  • Fanconi anemia, complementation group C2 tests
  • Fanconi anemia, complementation group D11 test
  • Fanconi anemia, complementation group D21 test
  • Fanconi anemia, complementation group E1 test
  • Fanconi anemia, complementation group F1 test
  • Fanconi anemia, complementation group G2 tests
  • Fanconi anemia, complementation group I1 test
  • Fanconi anemia, complementation group J1 test
  • Fanconi anemia, complementation group L1 test
  • Fanconi anemia, complementation group N2 tests
  • Fanconi anemia, complementation group O1 test
  • Fanconi anemia, complementation group P1 test
  • Fanconi anemia, complementation group Q1 test
  • Fanconi anemia, complementation group T1 test
  • Fanconi anemia, complementation group U1 test
  • Fanconi-Bickel syndrome1 test
  • Farber lipogranulomatosis1 test
  • Fatal familial insomnia1 test
  • Feingold syndrome 11 test
  • FG syndrome 11 test
  • Fibrosis of extraocular muscles, congenital, 11 test
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement1 test
  • Fibrous dysplasia of jaw1 test
  • Finnish congenital nephrotic syndrome1 test
  • Floating-Harbor syndrome1 test
  • Focal dermal hypoplasia1 test
  • Focal segmental glomerulosclerosis2 tests
  • Focal segmental glomerulosclerosis 12 tests
  • Focal segmental glomerulosclerosis 22 tests
  • Focal segmental glomerulosclerosis 3, susceptibility to2 tests
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Focal segmental glomerulosclerosis 52 tests
  • Focal segmental glomerulosclerosis 62 tests
  • Focal segmental glomerulosclerosis 72 tests
  • Focal segmental glomerulosclerosis 81 test
  • Focal segmental glomerulosclerosis 91 test
  • Fragile X syndrome1 test
  • Fraser syndrome 11 test
  • Fraser syndrome 21 test
  • Fraser syndrome 31 test
  • Frasier syndrome1 test
  • Freeman-Sheldon syndrome2 tests
  • Friedreich ataxia1 test
  • Friedreich ataxia 11 test
  • Frontometaphyseal dysplasia 11 test
  • Frontonasal dysplasia 11 test
  • Frontonasal dysplasia 21 test
  • Frontonasal dysplasia 31 test
  • Frontotemporal dementia2 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 22 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 32 tests
  • Fructose-biphosphatase deficiency1 test
  • Fuhrmann syndrome1 test
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Galloway-Mowat syndrome1 test
  • GAPO syndrome1 test
  • Gastrointestinal stromal tumor1 test
  • Gaucher disease type 3C1 test
  • Gaucher disease type I1 test
  • Gaucher disease type II1 test
  • Gaucher disease type III1 test
  • Gaucher disease, atypical, due to saposin C deficiency1 test
  • Gaucher disease, perinatal lethal1 test
  • Generalized dominant dystrophic epidermolysis bullosa1 test
  • Generalized epilepsy with febrile seizures plus1 test
  • Generalized epilepsy with febrile seizures plus, type 21 test
  • Generalized epilepsy with febrile seizures plus, type 71 test
  • Generalized juvenile polyposis/juvenile polyposis coli2 tests
  • Genitopatellar syndrome1 test
  • Gerstmann-Straussler-Scheinker syndrome1 test
  • Giant axonal neuropathy 11 test
  • Gilbert syndrome1 test
  • Glanzmann thrombasthenia1 test
  • Glaucoma2 tests
  • Glaucoma 1, open angle, A2 tests
  • Glaucoma 1, open angle, F1 test
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 1, open angle, O1 test
  • Glaucoma 3, primary congenital, A3 tests
  • Glaucoma 3, primary congenital, d1 test
  • Glaucoma, normal tension, susceptibility to1 test
  • Glomuvenous malformations1 test
  • Glucocorticoid deficiency with achalasia1 test
  • Glucocorticoid resistance, generalized1 test
  • Glucose-6-phosphate transport defect2 tests
  • GLUT1 deficiency syndrome 11 test
  • Glutaric aciduria, type 12 tests
  • Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to1 test
  • Glycogen storage disease 0, muscle1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
  • Glycogen storage disease due to hepatic glycogen synthase deficiency2 tests
  • Glycogen storage disease due to muscle beta-enolase deficiency1 test
  • Glycogen storage disease IIIa1 test
  • Glycogen storage disease IIIb1 test
  • Glycogen storage disease IXb2 tests
  • Glycogen storage disease IXc2 tests
  • Glycogen storage disease IXd2 tests
  • Glycogen storage disease type III1 test
  • Glycogen storage disease type IXa12 tests
  • Glycogen storage disease type X3 tests
  • Glycogen storage disease XI1 test
  • Glycogen storage disease XV2 tests
  • Glycogen storage disease, type II2 tests
  • Glycogen storage disease, type IV2 tests
  • Glycogen storage disease, type V3 tests
  • Glycogen storage disease, type VI2 tests
  • Glycogen storage disease, type VII2 tests
  • GM1 gangliosidosis type 21 test
  • GM1 gangliosidosis type 31 test
  • GNE myopathy1 test
  • Gonadotropin-independent familial sexual precocity1 test
  • Gorlin syndrome1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III1 test
  • Greig cephalopolysyndactyly syndrome1 test
  • Griscelli syndrome1 test
  • Griscelli syndrome type 11 test
  • Griscelli syndrome type 21 test
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
  • Growth delay due to insulin-like growth factor I resistance1 test
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
  • GTP cyclohydrolase I deficiency1 test
  • Hallermann-Streiff syndrome1 test
  • Hay-Wells syndrome of ectodermal dysplasia2 tests
  • Hb SS disease1 test
  • Hecht syndrome1 test
  • HELIX syndrome1 test
  • Helsmoortel-Van der Aa Syndrome2 tests
  • Hemochromatosis type 11 test
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemophagocytic lymphohistiocytosis, familial, 51 test
  • Hepatic adenomas, familial1 test
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary amyloidosis2 tests
  • Hereditary angioneurotic edema2 tests
  • Hereditary breast and ovarian cancer syndrome1 test
  • Hereditary coproporphyria1 test
  • Hereditary diffuse gastric cancer1 test
  • Hereditary diffuse leukoencephalopathy with spheroids2 tests
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary factor XI deficiency disease1 test
  • Hereditary fructosuria1 test
  • Hereditary hearing loss and deafness1 test
  • Hereditary hemochromatosis2 tests
  • Hereditary hemorrhagic telangiectasia type 12 tests
  • Hereditary hyperferritinemia with congenital cataracts1 test
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary leiomyomatosis and renal cell cancer1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary lymphedema type I2 tests
  • Hereditary motor and sensory neuropathy with optic atrophy1 test
  • Hereditary nonpolyposis colorectal cancer type 41 test
  • Hereditary nonpolyposis colorectal cancer type 51 test
  • Hereditary nonpolyposis colorectal cancer type 71 test
  • Hereditary pancreatitis2 tests
  • Hereditary sensory and autonomic neuropathy type 11 test
  • Hereditary sensory and autonomic neuropathy type II1 test
  • Hereditary spastic paraplegia 101 test
  • Hereditary spastic paraplegia 121 test
  • Hereditary spastic paraplegia 131 test
  • Hereditary spastic paraplegia 151 test
  • Hereditary spastic paraplegia 21 test
  • Hereditary spastic paraplegia 391 test
  • Hereditary spastic paraplegia 3A1 test
  • Hereditary spastic paraplegia 5A1 test
  • Hereditary spastic paraplegia 61 test
  • Hereditary spastic paraplegia 71 test
  • Hereditary spastic paraplegia 81 test
  • Hereditary spherocytosis1 test
  • Hermansky-Pudlak syndrome1 test
  • Hermansky-Pudlak syndrome 11 test
  • Hermansky-Pudlak syndrome 21 test
  • Hermansky-Pudlak syndrome 31 test
  • Hermansky-Pudlak syndrome 41 test
  • Hermansky-Pudlak syndrome 51 test
  • Hermansky-Pudlak syndrome 62 tests
  • Hermansky-Pudlak syndrome 71 test
  • Hermansky-Pudlak syndrome 81 test
  • Hermansky-Pudlak syndrome 91 test
  • Heterotaxy, visceral, 1, X-linked4 tests
  • Heterotaxy, visceral, 2, autosomal4 tests
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heterotaxy, visceral, 6, autosomal1 test
  • Heterotaxy, visceral, 7, autosomal1 test
  • Heterotaxy, visceral, 8, autosomal1 test
  • Hidrotic ectodermal dysplasia syndrome2 tests
  • Hirschsprung disease2 tests
  • Hirschsprung disease 12 tests
  • Hirschsprung disease 22 tests
  • Hirschsprung disease 32 tests
  • Hirschsprung disease 42 tests
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction1 test
  • HNSHA due to aldolase A deficiency1 test
  • Holocarboxylase synthetase deficiency2 tests
  • Holoprosencephaly sequence2 tests
  • Holt-Oram syndrome2 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
  • Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1 test
  • Huntington disease1 test
  • Huntington disease-like 21 test
  • Hurler syndrome1 test
  • Hyaline fibromatosis syndrome1 test
  • Hydatidiform mole, recurrent, 11 test
  • Hydrolethalus syndrome 11 test
  • Hydrolethalus syndrome 21 test
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
  • Hyper-IgM syndrome type 11 test
  • Hyper-IgM syndrome type 21 test
  • Hyper-IgM syndrome type 31 test
  • Hyper-IgM syndrome type 51 test
  • Hyperaldosteronism, familial, type I1 test
  • Hyperammonemia, type III3 tests
  • Hypercalcemia, infantile, 11 test
  • Hyperekplexia 11 test
  • Hyperekplexia 21 test
  • Hyperekplexia 31 test
  • Hyperglycinuria1 test
  • Hyperhomocysteinemia1 test
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1 test
  • Hyperinsulinemic hypoglycemia familial 51 test
  • Hyperinsulinemic hypoglycemia, familial, 11 test
  • Hyperinsulinemic hypoglycemia, familial, 22 tests
  • Hyperinsulinism due to glucokinase deficiency1 test
  • Hyperinsulinism-hyperammonemia syndrome2 tests
  • Hyperlipoproteinemia type IV1 test
  • Hyperlipoproteinemia, type I2 tests
  • Hyperlipoproteinemia, type ID2 tests
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Hyperparathyroidism1 test
  • Hyperparathyroidism 21 test
  • Hyperphenylalaninemia, mild, non-bh4-deficient1 test
  • Hyperphosphatasemia tarda2 tests
  • Hyperphosphatemic familial tumoral calcinosis 11 test
  • Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy1 test
  • Hyperthyroidism, familial gestational1 test
  • Hypertrophic cardiomyopathy 252 tests
  • Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
  • Hyperuricemic nephropathy, familial juvenile, 21 test
  • Hypobetalipoproteinemia, familial, 11 test
  • Hypobetalipoproteinemia, familial, 21 test
  • Hypocalcemia, autosomal dominant 11 test
  • Hypocalcemia, autosomal dominant 21 test
  • Hypocalciuric hypercalcemia, familial, type 11 test
  • Hypocalciuric hypercalcemia, familial, type II1 test
  • Hypocalciuric hypercalcemia, familial, type III1 test
  • Hypochondroplasia1 test
  • Hypogonadism with anosmia1 test
  • Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)2 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 16 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia2 tests
  • 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 anosmia1 test
  • Hypogonadotropic hypogonadism 8 with or without anosmia1 test
  • Hypohidrotic X-linked ectodermal dysplasia1 test
  • Hypokalemic periodic paralysis 11 test
  • Hypokalemic periodic paralysis, type 21 test
  • Hypomagnesemia 1, intestinal2 tests
  • Hypomagnesemia 4, renal2 tests
  • Hypomagnesemia 5, renal, with ocular involvement2 tests
  • Hypomagnesemia 6, renal2 tests
  • Hypomyelination, global cerebral1 test
  • Hypophosphatemic rickets, autosomal recessive, 23 tests
  • Hypoplastic left heart syndrome 11 test
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
  • Hypospadias 1, X-linked1 test
  • Hypospadias 2, X-linked1 test
  • Hypothyroidism, congenital, nongoitrous, 12 tests
  • Hypothyroidism, congenital, nongoitrous, 21 test
  • Hypothyroidism, congenital, nongoitrous, 51 test
  • Hypothyroidism, congenital, nongoitrous, 62 tests
  • Hypotrichosis 12 tests
  • Hypotrichosis 21 test
  • Ichthyosis2 tests
  • Ichthyosis bullosa of Siemens1 test
  • Ichthyosis lamellar, recessive1 test
  • Ichthyosis vulgaris1 test
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis1 test
  • Idiopathic basal ganglia calcification 11 test
  • Idiopathic basal ganglia calcification 51 test
  • Idiopathic growth hormone deficiency1 test
  • Idiopathic hypereosinophilic syndrome1 test
  • Idiopathic nephrotic syndrome1 test
  • Idiopathic Pulmonary Fibrosis2 tests
  • Imerslund-Gräsbeck syndrome1 test
  • Iminoglycinuria1 test
  • Immunodeficiency 111 test
  • Immunodeficiency 151 test
  • Immunodeficiency 182 tests
  • Immunodeficiency 192 tests
  • Immunodeficiency 26 with or without neurologic abnormalities1 test
  • Immunodeficiency 31a2 tests
  • Immunodeficiency 31C1 test
  • Immunodeficiency 351 test
  • Immunodeficiency 81 test
  • Immunodeficiency due to defect in cd3-zeta1 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 11 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 31 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 41 test
  • Incontinentia pigmenti syndrome1 test
  • Infantile GM1 gangliosidosis1 test
  • Infantile hypophosphatasia1 test
  • Infantile nephronophthisis1 test
  • Infantile neuroaxonal dystrophy1 test
  • Infantile onset spinocerebellar ataxia1 test
  • Infantile-onset ascending hereditary spastic paralysis1 test
  • Inflammatory bowel disease1 test
  • Inflammatory bowel disease 11 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans2 tests
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital1 test
  • Intrinsic factor deficiency2 tests
  • Iodotyrosine deiodination defect2 tests
  • Iodotyrosyl coupling defect2 tests
  • Isolated coronal synostosis1 test
  • Isolated growth hormone deficiency type IB1 test
  • Isolated lutropin deficiency1 test
  • Isolated sulfite oxidase deficiency1 test
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Jackson-Weiss syndrome1 test
  • Jervell and Lange-Nielsen syndrome1 test
  • Jeune thoracic dystrophy1 test
  • Johanson-Blizzard syndrome1 test
  • Joubert syndrome1 test
  • Joubert syndrome 11 test
  • Joubert syndrome 101 test
  • Joubert syndrome 21 test
  • Joubert syndrome 31 test
  • Joubert syndrome 41 test
  • Joubert syndrome 51 test
  • Joubert syndrome 61 test
  • Joubert syndrome 71 test
  • Joubert syndrome 81 test
  • Joubert syndrome 91 test
  • Junctional epidermolysis bullosa1 test
  • Junctional epidermolysis bullosa gravis of Herlitz2 tests
  • Junctional epidermolysis bullosa, non-Herlitz type2 tests
  • Juvenile myelomonocytic leukemia1 test
  • Juvenile myoclonic epilepsy1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile nephropathic cystinosis1 test
  • Juvenile retinoschisis1 test
  • Kabuki syndrome2 tests
  • Kabuki syndrome 12 tests
  • Kabuki syndrome 22 tests
  • Kallmann syndrome 32 tests
  • Kartagener syndrome1 test
  • KBG syndrome1 test
  • Kearns Sayre syndrome1 test
  • Kennedy disease1 test
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant1 test
  • Keratoconus 11 test
  • Keratosis follicularis1 test
  • Kindler syndrome2 tests
  • Kleefstra syndrome 11 test
  • Klippel-Feil syndrome2 tests
  • Klippel-Feil syndrome 1, autosomal dominant1 test
  • Klippel-Feil syndrome 2, autosomal recessive1 test
  • Klippel-Feil syndrome 3, autosomal dominant1 test
  • Kniest dysplasia1 test
  • Knobloch syndrome 11 test
  • Koolen-de Vries syndrome1 test
  • Kostmann syndrome1 test
  • Kufor-Rakeb syndrome3 tests
  • Lafora disease1 test
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome1 test
  • Leber congenital amaurosis2 tests
  • Leber congenital amaurosis 11 test
  • Leber congenital amaurosis 101 test
  • Leber congenital amaurosis 111 test
  • Leber congenital amaurosis 121 test
  • Leber congenital amaurosis 131 test
  • Leber congenital amaurosis 141 test
  • Leber congenital amaurosis 151 test
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 21 test
  • Leber congenital amaurosis 31 test
  • Leber congenital amaurosis 42 tests
  • Leber congenital amaurosis 51 test
  • Leber congenital amaurosis 61 test
  • Leber congenital amaurosis 71 test
  • Leber congenital amaurosis 81 test
  • Leber hereditary optic neuropathy1 test
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 102 tests
  • Left ventricular noncompaction 61 test
  • Left ventricular noncompaction 81 test
  • Legius syndrome2 tests
  • Leigh syndrome3 tests
  • Leigh Syndrome (mtDNA mutation)1 test
  • Lenz microphthalmia syndrome1 test
  • Leprechaunism syndrome1 test
  • Leptin deficiency or dysfunction1 test
  • Leptin receptor deficiency1 test
  • Leri-Weill dyschondrosteosis1 test
  • Lesch-Nyhan syndrome1 test
  • Lethal acantholytic epidermolysis bullosa3 tests
  • Lethal arthrogryposis with anterior horn cell disease1 test
  • Lethal congenital contracture syndrome 11 test
  • Leukocyte adhesion deficiency1 test
  • Leukodystrophy, adult-onset, autosomal dominant1 test
  • Leukodystrophy, hypomyelinating, 21 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
  • Leukoencephalopathy with vanishing white matter2 tests
  • Lewy body dementia2 tests
  • Li-Fraumeni syndrome 11 test
  • Li-Fraumeni syndrome 21 test
  • Liddle syndrome 12 tests
  • Lig4 syndrome1 test
  • Limb-girdle muscular dystrophy2 tests
  • Limb-girdle muscular dystrophy, type 1E2 tests
  • Limb-girdle muscular dystrophy, type 1F2 tests
  • Limb-girdle muscular dystrophy, type 1G2 tests
  • Limb-girdle muscular dystrophy, type 2A2 tests
  • Limb-girdle muscular dystrophy, type 2J1 test
  • Limb-girdle muscular dystrophy, type 2L2 tests
  • Limb-girdle muscular dystrophy, type 2Q2 tests
  • Limb-girdle muscular dystrophy, type 2S1 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C12 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C22 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C32 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C42 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C52 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C92 tests
  • Linear skin defects with multiple congenital anomalies 11 test
  • Linear skin defects with multiple congenital anomalies 21 test
  • Lipase deficiency, combined2 tests
  • Lipodystrophy, congenital generalized, type 41 test
  • Lissencephaly1 test
  • Lissencephaly 2, X-linked1 test
  • Lissencephaly 41 test
  • Lissencephaly, X-linked2 tests
  • Localized epidermolysis bullosa simplex2 tests
  • Loeys-Dietz syndrome 13 tests
  • Loeys-Dietz syndrome 23 tests
  • Loeys-Dietz syndrome 32 tests
  • Loeys-Dietz syndrome 42 tests
  • Loeys-Dietz syndrome 51 test
  • Long QT syndrome2 tests
  • Long QT syndrome 11 test
  • Long QT syndrome 111 test
  • Long QT syndrome 121 test
  • Long QT syndrome 131 test
  • Long QT syndrome 141 test
  • Long QT syndrome 151 test
  • Long QT syndrome 21 test
  • Long QT syndrome 31 test
  • Long QT syndrome 51 test
  • Long QT syndrome 61 test
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
  • Lowe syndrome1 test
  • Lung carcinoma3 tests
  • Lymphangiomyomatosis2 tests
  • Lymphatic malformation1 test
  • Lymphoproliferative syndrome 1, X-linked1 test
  • Lymphoproliferative syndrome 2, X-linked1 test
  • Lynch syndrome1 test
  • Lynch syndrome I1 test
  • Lynch syndrome II1 test
  • Lysosomal acid lipase deficiency1 test
  • Macrocephaly, alopecia, cutis laxa, and scoliosis1 test
  • Macrocephaly/autism syndrome1 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Macular corneal dystrophy1 test
  • Macular dystrophy, vitelliform, adult-onset1 test
  • Majeed syndrome1 test
  • Malignant hyperthermia susceptibility1 test
  • Malignant hyperthermia, susceptibility to, 11 test
  • Malignant hyperthermia, susceptibility to, 51 test
  • Malignant tumor of prostate1 test
  • Mandibulofacial dysostosis-microcephaly syndrome1 test
  • Maple syrup urine disease1 test
  • Maple syrup urine disease, type 33 tests
  • Marfan syndrome2 tests
  • Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections1 test
  • Marinesco-Sjögren syndrome1 test
  • Marshall-Smith syndrome1 test
  • MASA syndrome2 tests
  • Mastocytosis2 tests
  • Matthew-Wood syndrome1 test
  • Maturity-onset diabetes of the young type 42 tests
  • Maturity-onset diabetes of the young type 62 tests
  • Maturity-onset diabetes of the young type 72 tests
  • Maturity-onset diabetes of the young type 82 tests
  • Maturity-onset diabetes of the young type 92 tests
  • Maturity-onset diabetes of the young, type 12 tests
  • Maturity-onset diabetes of the young, type 102 tests
  • Maturity-onset diabetes of the young, type 112 tests
  • Maturity-onset diabetes of the young, type 132 tests
  • Maturity-onset diabetes of the young, type 142 tests
  • Maturity-onset diabetes of the young, type 22 tests
  • Maturity-onset diabetes of the young, type 32 tests
  • McCune-Albright syndrome1 test
  • McLeod neuroacanthocytosis syndrome1 test
  • Meckel syndrome type 11 test
  • Meckel syndrome type 61 test
  • Meckel syndrome, type 21 test
  • Meckel syndrome, type 31 test
  • Meckel syndrome, type 41 test
  • Meckel syndrome, type 51 test
  • Meckel-Gruber syndrome1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Megaconial type congenital muscular dystrophy1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 11 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 2a1 test
  • Megaloblastic anemia due to dihydrofolate reductase deficiency2 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
  • Melanoma3 tests
  • Melanoma and neural system tumor syndrome1 test
  • Melnick-Needles syndrome1 test
  • Menkes kinky-hair syndrome1 test
  • Mental retardation 3, X-linked2 tests
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1 test
  • Mental retardation, autosomal dominant 141 test
  • Mental retardation, autosomal dominant 151 test
  • Mental retardation, autosomal dominant 161 test
  • Mental retardation, autosomal dominant 271 test
  • Mental retardation, with or without seizures, ARX-related, X-linked2 tests
  • Mental retardation, X-linked 191 test
  • Mental retardation, X-linked, syndromic 131 test
  • Mental retardation, X-linked, syndromic, Hedera type1 test
  • Meretoja syndrome1 test
  • Merosin deficient congenital muscular dystrophy1 test
  • MERRF syndrome1 test
  • Metachromatic leukodystrophy1 test
  • Metaphyseal chondrodysplasia, Jansen type1 test
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Metaphyseal dysplasia without hypotrichosis1 test
  • Methylcobalamin deficiency type cblG1 test
  • Methylmalonic acidemia with homocystinuria cblD2 tests
  • Methylmalonic acidemia with homocystinuria, type cblJ2 tests
  • Methylmalonic aciduria and homocystinuria type cblF2 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2 tests
  • Methylmalonic aciduria due to transcobalamin receptor defect1 test
  • Methylmalonyl-CoA epimerase deficiency2 tests
  • Microcephalic osteodysplastic primordial dwarfism type II2 tests
  • Microcephaly, epilepsy, and diabetes syndrome1 test
  • Microcytic anemia1 test
  • Microphthalmia with brain and digit anomalies1 test
  • Microphthalmia with limb anomalies1 test
  • Microphthalmia, isolated 22 tests
  • Microphthalmia, isolated 32 tests
  • Microphthalmia, isolated 41 test
  • Microphthalmia, isolated 51 test
  • Microphthalmia, isolated 61 test
  • Microphthalmia, isolated 71 test
  • Microphthalmia, isolated 81 test
  • Microphthalmia, isolated, with coloboma 52 tests
  • Microphthalmia, isolated, with coloboma 61 test
  • Microphthalmia, isolated, with coloboma 71 test
  • Microphthalmia, isolated, with coloboma 91 test
  • Microphthalmia, syndromic 121 test
  • Microphthalmia/coloboma and skeletal dysplasia syndrome1 test
  • Microspherophakia1 test
  • Minicore myopathy with external ophthalmoplegia1 test
  • Mitchell-Riley syndrome1 test
  • mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
  • Mitochondrial complex I deficiency3 tests
  • Mitochondrial complex II deficiency, nuclear type 11 test
  • Mitochondrial complex III deficiency, nuclear type 11 test
  • Mitochondrial complex III deficiency, nuclear type 21 test
  • Mitochondrial complex III deficiency, nuclear type 31 test
  • Mitochondrial complex III deficiency, nuclear type 41 test
  • Mitochondrial complex IV deficiency2 tests
  • Mitochondrial diseases1 test
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)1 test
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1 test
  • Mitochondrial DNA depletion syndrome 21 test
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type2 tests
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)2 tests
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)2 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy2 tests
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
  • Mitochondrial myopathy-lactic acidosis-deafness syndrome1 test
  • Miyoshi muscular dystrophy 11 test
  • Miyoshi muscular dystrophy 31 test
  • Molybdenum cofactor deficiency, complementation group A1 test
  • Molybdenum cofactor deficiency, complementation group B1 test
  • Molybdenum cofactor deficiency, complementation group C1 test
  • Mowat-Wilson syndrome2 tests
  • Moyamoya disease1 test
  • MPI-CDG1 test
  • Mucolipidosis type II2 tests
  • Mucolipidosis type III gamma2 tests
  • Mucopolysaccharidosis type 62 tests
  • Mucopolysaccharidosis type 72 tests
  • Mucopolysaccharidosis, MPS-I-H/S2 tests
  • Mucopolysaccharidosis, MPS-I-S2 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 syndrome1 test
  • Multiple acyl-CoA dehydrogenase deficiency1 test
  • Multiple congenital exostosis2 tests
  • Multiple endocrine neoplasia, type 11 test
  • Multiple endocrine neoplasia, type 2a1 test
  • Multiple endocrine neoplasia, type 2b1 test
  • Multiple endocrine neoplasia, type 41 test
  • Multiple epiphyseal dysplasia 11 test
  • Multiple epiphyseal dysplasia 61 test
  • Multiple epiphyseal dysplasia type 42 tests
  • Multiple epiphyseal dysplasia type 51 test
  • Multiple Epiphyseal Dysplasia, Dominant1 test
  • Multiple exostoses type 21 test
  • Multiple fibrofolliculomas1 test
  • Multiple mitochondrial dysfunctions syndrome1 test
  • Multiple synostoses syndrome 21 test
  • Multiple synostoses syndrome 31 test
  • Multiple system atrophy1 test
  • Muscle AMP deaminase deficiency1 test
  • Muscle eye brain disease1 test
  • Muscular dystrophy1 test
  • Muscular dystrophy, limb-girdle, type 2R2 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 tests
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 142 tests
  • Mutilating keratoderma1 test
  • Myasthenia, limb-girdle, familial1 test
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency2 tests
  • Myasthenic syndrome, congenital, 2a, slow-channel1 test
  • Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, 3a, slow-channel1 test
  • Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, 4a, slow-channel1 test
  • Myasthenic syndrome, congenital, 4b, fast-channel1 test
  • Myasthenic syndrome, slow-channel congenital2 tests
  • Myelofibrosis1 test
  • MYH-associated polyposis1 test
  • Myoclonic dystonia 112 tests
  • Myofibrillar myopathy2 tests
  • Myofibrillar myopathy 12 tests
  • Myofibrillar myopathy 33 tests
  • Myofibrillar myopathy, BAG3-related1 test
  • Myofibrillar myopathy, filamin C-related1 test
  • Myofibrillar myopathy, ZASP-related1 test
  • Myokymia 11 test
  • Myopathy1 test
  • Myopathy with postural muscle atrophy, X-linked1 test
  • Myopathy, centronuclear, 11 test
  • Myopathy, centronuclear, 21 test
  • Myopathy, distal, 11 test
  • Myopathy, distal, 41 test
  • Myopia, high, with cataract and vitreoretinal degeneration1 test
  • Myotonia congenita2 tests
  • Myotonic dystrophy type 21 test
  • Nager syndrome1 test
  • Nail-patella syndrome1 test
  • NARP syndrome1 test
  • Navajo neurohepatopathy1 test
  • Naxos disease1 test
  • Nemaline myopathy2 tests
  • Nemaline myopathy 31 test
  • Neonatal intrahepatic cholestasis caused by citrin deficiency2 tests
  • Neoplasm of stomach1 test
  • Nephrogenic diabetes insipidus, autosomal1 test
  • Nephrogenic diabetes insipidus, X-linked1 test
  • Nephronophthisis4 tests
  • Nephronophthisis 11 test
  • Nephronophthisis 31 test
  • Nephronophthisis 41 test
  • Nephronophthisis 71 test
  • Nephronophthisis 91 test
  • Nephropathic cystinosis1 test
  • Nephrotic syndrome, type 31 test
  • Nephrotic syndrome, type 43 tests
  • Nephrotic syndrome, type 5, with or without ocular abnormalities2 tests
  • Nephrotic syndrome, type 61 test
  • Nephrotic syndrome, type 72 tests
  • Netherton syndrome1 test
  • Neurodegeneration with brain iron accumulation1 test
  • Neurodegeneration with brain iron accumulation 2b2 tests
  • Neurodegeneration with brain iron accumulation 41 test
  • Neurodegeneration with brain iron accumulation 52 tests
  • Neurodegeneration with brain iron accumulation 61 test
  • Neuroferritinopathy2 tests
  • Neurofibromatosis, type 12 tests
  • Neuronal ceroid lipofuscinosis1 test
  • Neuronal ceroid lipofuscinosis 11 test
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 31 test
  • Neuronal ceroid lipofuscinosis 4B1 test
  • Neuronal ceroid lipofuscinosis 51 test
  • Neuronal ceroid lipofuscinosis 61 test
  • Neuronal ceroid lipofuscinosis 71 test
  • Neuronal ceroid lipofuscinosis 81 test
  • Neuropathy, hereditary motor and sensory, Russe type1 test
  • Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers1 test
  • Neutral 1 amino acid transport defect1 test
  • Neutral lipid storage myopathy1 test
  • Neutropenia, severe congenital 1, autosomal dominant1 test
  • Neutropenia, severe congenital, 7, autosomal recessive1 test
  • Nicolaides-Baraitser syndrome2 tests
  • Niemann-Pick disease type C11 test
  • Niemann-Pick disease, type B1 test
  • Niemann-Pick disease, type C21 test
  • Nijmegen breakage syndrome-like disorder1 test
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
  • Non-Hodgkin lymphoma1 test
  • Non-ketotic hyperglycinemia1 test
  • Non-syndromic syndactyly1 test
  • Nonsyndromic hearing loss and deafness1 test
  • Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive1 test
  • Noonan syndrome2 tests
  • Noonan syndrome 11 test
  • Noonan syndrome 31 test
  • Noonan syndrome 41 test
  • Noonan syndrome 51 test
  • Noonan syndrome 61 test
  • Noonan syndrome 71 test
  • Noonan syndrome with multiple lentigines1 test
  • Noonan syndrome-like disorder with loose anagen hair1 test
  • Noonan syndrome-like disorder with loose anagen hair 21 test
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2 tests
  • Norman-Roberts syndrome1 test
  • Obesity2 tests
  • Ocular albinism, type I2 tests
  • Ocular albinism, type II1 test
  • Ocular coloboma, autosomal recessive1 test
  • Ocular cystinosis1 test
  • Oculocutaneous albinism2 tests
  • Oculocutaneous albinism type 12 tests
  • Oculocutaneous albinism type 1B2 tests
  • Oculocutaneous albinism type 32 tests
  • Oculocutaneous albinism type 41 test
  • Oculodentodigital dysplasia1 test
  • Oculodentodigital dysplasia, autosomal recessive1 test
  • Oculofaciocardiodental syndrome2 tests
  • Oculopharyngeal muscular dystrophy1 test
  • Odonto-onycho-dermal dysplasia1 test
  • Oguchi disease2 tests
  • Oguchi disease 22 tests
  • Oligodendroglioma1 test
  • Opitz GBBB syndrome, type I1 test
  • Optic atrophy1 test
  • Optic atrophy 31 test
  • Optic atrophy 71 test
  • Ornithine carbamoyltransferase deficiency3 tests
  • Orofaciodigital syndrome I1 test
  • Orofaciodigital syndrome type 61 test
  • Orotic aciduria1 test
  • Osteogenesis imperfecta2 tests
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 71 test
  • Osteogenesis imperfecta type 81 test
  • Osteogenesis imperfecta type 91 test
  • Osteogenesis imperfecta, type VI1 test
  • Osteogenesis imperfecta, type XI1 test
  • Osteogenesis imperfecta, type xiii1 test
  • Osteogenesis imperfecta, type xv1 test
  • Osteomyelitis, sterile multifocal, with periostitis and pustulosis1 test
  • Osteopathia striata with cranial sclerosis1 test
  • Osteopetrosis with renal tubular acidosis4 tests
  • Osteopetrosis, autosomal dominant1 test
  • Osteopetrosis, autosomal recessive 52 tests
  • Osteopetrosis, autosomal recessive 82 tests
  • Osteoporosis with pseudoglioma1 test
  • Oto-palato-digital syndrome, type I1 test
  • Oto-palato-digital syndrome, type II1 test
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant2 tests
  • Ovarian dysgenesis 11 test
  • Ovarian dysgenesis 21 test
  • Pachyonychia congenita syndrome2 tests
  • Paget disease of bone 31 test
  • Pallister-Hall syndrome1 test
  • Palmoplantar keratoderma, nonepidermolytic, focal 11 test
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
  • Palmoplantar keratoderma-deafness syndrome1 test
  • Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
  • Pancreatic agenesis and congenital heart disease1 test
  • Papillary thyroid carcinoma1 test
  • Paragangliomas 21 test
  • Paragangliomas 31 test
  • Paragangliomas 41 test
  • Paragangliomas 51 test
  • Paramyotonia congenita of von Eulenburg1 test
  • Parietal foramina 11 test
  • Parietal foramina 21 test
  • Parkes Weber syndrome1 test
  • Parkinson disease1 test
  • Parkinson disease 131 test
  • Parkinson disease 141 test
  • Parkinson disease 152 tests
  • Parkinson disease 172 tests
  • Parkinson disease 181 test
  • Parkinson disease 19a, juvenile-onset1 test
  • Parkinson disease 22 tests
  • Parkinson disease 20, early-onset1 test
  • Parkinson disease 52 tests
  • Parkinson disease 6, autosomal recessive early-onset2 tests
  • Parkinson disease 72 tests
  • Parkinson disease 8, autosomal dominant2 tests
  • Parkinson disease, late-onset1 test
  • Parkinson-dementia syndrome1 test
  • Parkinsonism with spasticity, X-linked1 test
  • Parkinsonism-dystonia, infantile, 12 tests
  • Paroxysmal extreme pain disorder1 test
  • Paroxysmal kinesigenic dyskinesia1 test
  • Paroxysmal nocturnal hemoglobinuria1 test
  • Paroxysmal nonkinesigenic dyskinesia 11 test
  • Partial albinism1 test
  • Partial androgen insensitivity syndrome1 test
  • Partington syndrome1 test
  • Paternal uniparental disomy of chromosome 141 test
  • Peeling skin syndrome 11 test
  • Peeling skin syndrome 21 test
  • Pelizaeus-Merzbacher disease1 test
  • Pena-Shokeir syndrome type I2 tests
  • Pendred syndrome2 tests
  • Periodic fever-aphtous stomatitis-pharyngitis-adenopathy2 tests
  • Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease2 tests
  • Periventricular nodular heterotopia1 test
  • Periventricular nodular heterotopia 13 tests
  • Perlman syndrome1 test
  • Permanent neonatal diabetes mellitus1 test
  • Peroxisome biogenesis disorder 10A1 test
  • Peroxisome biogenesis disorder 11A1 test
  • Peroxisome biogenesis disorder 12A1 test
  • Peroxisome biogenesis disorder 13A1 test
  • Peroxisome biogenesis disorder 1A (Zellweger)2 tests
  • Peroxisome biogenesis disorder 2A (Zellweger)1 test
  • Peroxisome biogenesis disorder 3A1 test
  • Peroxisome biogenesis disorder 4a (zellweger)2 tests
  • Peroxisome biogenesis disorder 5a (zellweger)2 tests
  • Peroxisome biogenesis disorder 6A2 tests
  • Peroxisome biogenesis disorder 7A2 tests
  • Peroxisome biogenesis disorder 8A1 test
  • Perrault syndrome1 test
  • Perry syndrome1 test
  • Persistent Mullerian duct syndrome1 test
  • Peters plus syndrome1 test
  • Peutz-Jeghers syndrome1 test
  • Pfeiffer syndrome1 test
  • Phenylketonuria1 test
  • Pheochromocytoma2 tests
  • Pheochromocytoma-Paraganglioma1 test
  • Phosphate transport defect2 tests
  • Pick disease1 test
  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked1 test
  • Pigmentary pallidal degeneration2 tests
  • Pigmentary retinal dystrophy2 tests
  • Pineal hyperplasia AND diabetes mellitus syndrome1 test
  • Pitt-Hopkins syndrome1 test
  • Pitt-Hopkins-like syndrome1 test
  • Pituitary adenoma 2, GH-secreting1 test
  • Pituitary dependent hypercortisolism1 test
  • Pituitary hormone deficiency, combined1 test
  • Pituitary hormone deficiency, combined 21 test
  • Pituitary hormone deficiency, combined 61 test
  • Pituitary hormone deficiency, combined, 11 test
  • Plasminogen deficiency, type I1 test
  • Pleuropulmonary blastoma1 test
  • Pneumothorax, primary spontaneous1 test
  • Polycystic kidney disease 21 test
  • Polycystic kidney disease, adult type1 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 12 tests
  • Polycystic liver disease2 tests
  • Polycystic liver disease 11 test
  • Polycythemia vera1 test
  • Polydactyly, preaxial II1 test
  • Polyglandular autoimmune syndrome, type 11 test
  • Polymicrogyria, asymmetric1 test
  • Polymicrogyria, bilateral frontoparietal1 test
  • Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
  • Pontocerebellar hypoplasia type 1A1 test
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 2B1 test
  • Pontocerebellar hypoplasia type 2C1 test
  • Pontocerebellar hypoplasia type 41 test
  • Pontocerebellar hypoplasia type 51 test
  • Pontocerebellar hypoplasia type 61 test
  • Pontocerebellar hypoplasia type 81 test
  • Pontocerebellar hypoplasia, type 1b1 test
  • Pontoneocerebellar hypoplasia2 tests
  • Poretti-Boltshauser syndrome1 test
  • Porphobilinogen synthase deficiency1 test
  • Postaxial polydactyly type A11 test
  • Posterior polymorphous corneal dystrophy 31 test
  • Prader-Willi syndrome1 test
  • Pregnancy loss, recurrent, susceptibility to, 11 test
  • Pregnancy loss, recurrent, susceptibility to, 21 test
  • Premature ovarian failure 2a1 test
  • Premature ovarian failure 31 test
  • Pretibial epidermolysis bullosa1 test
  • Primary autosomal recessive microcephaly2 tests
  • Primary autosomal recessive microcephaly 11 test
  • Primary autosomal recessive microcephaly 111 test
  • Primary autosomal recessive microcephaly 121 test
  • Primary autosomal recessive microcephaly 141 test
  • Primary autosomal recessive microcephaly 21 test
  • Primary autosomal recessive microcephaly 31 test
  • Primary autosomal recessive microcephaly 41 test
  • Primary autosomal recessive microcephaly 51 test
  • Primary autosomal recessive microcephaly 61 test
  • Primary autosomal recessive microcephaly 71 test
  • Primary autosomal recessive microcephaly 81 test
  • Primary autosomal recessive microcephaly 91 test
  • Primary ciliary dyskinesia1 test
  • Primary dilated cardiomyopathy1 test
  • Primary erythromelalgia1 test
  • Primary familial dilated cardiomyopathy2 tests
  • Primary familial hypertrophic cardiomyopathy1 test
  • Primary familial polycythemia due to EPO receptor mutation2 tests
  • Primary hyperoxaluria1 test
  • Primary hyperoxaluria, type I1 test
  • Primary hyperoxaluria, type II1 test
  • Primary hyperoxaluria, type III1 test
  • Primary hypertrophic osteoarthropathy, autosomal recessive 21 test
  • Primary hypomagnesemia3 tests
  • Primary localized cutaneous amyloidosis 11 test
  • Primary open angle glaucoma1 test
  • Primary pulmonary hypertension 12 tests
  • Progressive bulbar palsy of childhood1 test
  • Progressive external ophthalmoplegia1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12 tests
  • Progressive familial heart block type IB2 tests
  • Progressive familial intrahepatic cholestasis 21 test
  • Progressive familial intrahepatic cholestasis 31 test
  • Progressive familial intrahepatic cholestasis 41 test
  • Progressive myoclonic epilepsy1 test
  • Progressive myoclonus epilepsy with ataxia1 test
  • Progressive myositis ossificans1 test
  • Progressive osseous heteroplasia1 test
  • Progressive pseudorheumatoid dysplasia1 test
  • Progressive sclerosing poliodystrophy2 tests
  • Progressive supranuclear ophthalmoplegia1 test
  • Prolactin-producing pituitary gland adenoma1 test
  • Proline dehydrogenase deficiency1 test
  • Proopiomelanocortin deficiency1 test
  • Properdin deficiency, X-linked1 test
  • Propionic acidemia1 test
  • Proprotein convertase 1/3 deficiency1 test
  • Protoporphyria, erythropoietic, 11 test
  • Protoporphyria, erythropoietic, X-linked1 test
  • Pseudo-Hurler polydystrophy1 test
  • Pseudo-TORCH syndrome 11 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
  • Pseudoexfoliation glaucoma1 test
  • Pseudohypoaldosteronism type 11 test
  • Pseudohypoaldosteronism type 2A2 tests
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudohypoparathyroidism2 tests
  • Pseudohypoparathyroidism type 1B1 test
  • Pseudohypoparathyroidism type 1C1 test
  • Pseudopseudohypoparathyroidism2 tests
  • Pseudoxanthoma elasticum1 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 11 test
  • Pulmonary fibrosis, idiopathic, susceptibility to1 test
  • Pulmonary surfactant metabolism dysfunction2 tests
  • Purine-nucleoside phosphorylase deficiency1 test
  • Pyknodysostosis1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
  • Pyridoxal phosphate-responsive seizures1 test
  • Pyridoxine-dependent epilepsy1 test
  • Pyruvate dehydrogenase E1-alpha deficiency3 tests
  • Pyruvate dehydrogenase E1-beta deficiency2 tests
  • Pyruvate dehydrogenase E2 deficiency1 test
  • Pyruvate dehydrogenase E3-binding protein deficiency1 test
  • Pyruvate dehydrogenase phosphatase deficiency1 test
  • Pyruvate kinase deficiency of red cells1 test
  • Radial aplasia-thrombocytopenia syndrome1 test
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
  • Rapadilino syndrome1 test
  • Rapp-Hodgkin ectodermal dysplasia syndrome1 test
  • RAS-associated autoimmune leukoproliferative disorder1 test
  • Recessive dystrophic epidermolysis bullosa1 test
  • Refsum disease, adult, 11 test
  • Renal carnitine transport defect1 test
  • Renal cell carcinoma, nonpapillary1 test
  • Renal cell carcinoma, papillary, 11 test
  • Renal coloboma syndrome1 test
  • Renal cysts and diabetes syndrome3 tests
  • Renal dysplasia1 test
  • Renal dysplasia and retinal aplasia1 test
  • Renal hypomagnesemia 22 tests
  • Renal hypouricemia 21 test
  • Renal tubular acidosis1 test
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Renal tubular acidosis, distal, autosomal recessive2 tests
  • Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss1 test
  • Renal tubular acidosis, distal, with hemolytic anemia1 test
  • Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation2 tests
  • Reticular dysgenesis1 test
  • Retinal cone dystrophy 3A1 test
  • Retinitis pigmentosa3 tests
  • Retinitis pigmentosa 11 test
  • Retinitis pigmentosa 101 test
  • Retinitis pigmentosa 111 test
  • Retinitis pigmentosa 121 test
  • Retinitis pigmentosa 151 test
  • Retinitis pigmentosa 181 test
  • Retinitis pigmentosa 191 test
  • Retinitis pigmentosa 21 test
  • Retinitis pigmentosa 201 test
  • Retinitis pigmentosa 251 test
  • Retinitis pigmentosa 261 test
  • Retinitis pigmentosa 391 test
  • Retinitis pigmentosa 41 test
  • Retinitis pigmentosa 401 test
  • Retinitis pigmentosa 431 test
  • Retinitis pigmentosa 471 test
  • Retinitis pigmentosa 71 test
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
  • Retinoblastoma1 test
  • Rett syndrome1 test
  • Rett syndrome, congenital variant1 test
  • Rhabdoid tumor predisposition syndrome 11 test
  • Rhabdoid tumor predisposition syndrome 21 test
  • Rhizomelic chondrodysplasia punctata type 11 test
  • Rhizomelic chondrodysplasia punctata type 21 test
  • Rhizomelic chondrodysplasia punctata type 31 test
  • Rippling muscle disease 22 tests
  • Roberts-SC phocomelia syndrome1 test
  • Robinow syndrome, autosomal dominant 11 test
  • Robinow syndrome, autosomal recessive1 test
  • Rolandic epilepsy1 test
  • Rothmund-Thomson syndrome1 test
  • Roussy-Lévy syndrome1 test
  • Rubinstein-Taybi syndrome 11 test
  • Rubinstein-Taybi syndrome 21 test
  • Saethre-Chotzen syndrome1 test
  • Saldino-Mainzer syndrome1 test
  • Salla disease1 test
  • Sandhoff disease2 tests
  • Sarcotubular myopathy2 tests
  • Schimke immuno-osseous dysplasia1 test
  • Schinzel-Giedion syndrome1 test
  • Schizencephaly1 test
  • Schwannomatosis2 tests
  • SCHWANNOMATOSIS, SOMATIC1 test
  • Schwartz-Jampel syndrome1 test
  • Sclerosteosis 11 test
  • Seckel syndrome2 tests
  • Seckel syndrome 12 tests
  • Seckel syndrome 22 tests
  • Seckel syndrome 42 tests
  • Seckel syndrome 52 tests
  • Seckel syndrome 62 tests
  • Seckel syndrome 71 test
  • Seckel syndrome 81 test
  • Secondary hypothyroidism2 tests
  • Seizures, benign familial infantile, 21 test
  • Sengers syndrome1 test
  • Senior-Loken syndrome 11 test
  • Senior-Loken syndrome 41 test
  • Senior-Loken syndrome 51 test
  • Senior-Loken syndrome 61 test
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
  • Septo-optic dysplasia sequence2 tests
  • Severe achondroplasia with developmental delay and acanthosis nigricans1 test
  • Severe autosomal recessive muscular dystrophy of childhood - North African type2 tests
  • Severe combined immunodeficiency due to ADA deficiency2 tests
  • Severe combined immunodeficiency due to DCLRE1C deficiency1 test
  • Severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative2 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive2 tests
  • Severe congenital neutropenia 4, autosomal recessive1 test
  • Severe congenital neutropenia 5, autosomal recessive1 test
  • Severe congenital neutropenia 6, autosomal recessive1 test
  • Severe myoclonic epilepsy in infancy2 tests
  • Severe X-linked myotubular myopathy1 test
  • Short QT syndrome 11 test
  • Short QT syndrome 21 test
  • Short QT syndrome 31 test
  • Short stature, idiopathic, autosomal1 test
  • Short stature, idiopathic, X-linked1 test
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
  • SHORT syndrome1 test
  • Short-rib thoracic dysplasia 3 with or without polydactyly1 test
  • Shprintzen-Goldberg syndrome1 test
  • Shwachman-Diamond syndrome 11 test
  • Sialic acid storage disease, severe infantile type1 test
  • SICK SINUS SYNDROME 2 WITH CARDIAC NONCOMPACTION AND ASCENDING AORTA DILATION1 test
  • Silver-Russell syndrome 11 test
  • Simpson-Golabi-Behmel syndrome type 11 test
  • Sitosterolemia1 test
  • Situs inversus viscerum1 test
  • Sjögren-Larsson syndrome1 test
  • Skeletal dysplasia1 test
  • Skin/hair/eye pigmentation, variation in, 42 tests
  • Smith-Lemli-Opitz syndrome1 test
  • Smith-Magenis syndrome1 test
  • Snowflake vitreoretinal degeneration1 test
  • Somatotroph adenoma3 tests
  • Sorsby fundus dystrophy1 test
  • Sotos syndrome 11 test
  • Sotos syndrome 21 test
  • Spastic ataxia2 tests
  • Spastic ataxia 5, autosomal recessive2 tests
  • Spastic paraplegia3 tests
  • Spastic paraplegia 11, autosomal recessive1 test
  • Spastic paraplegia 171 test
  • Spastic paraplegia 31, autosomal dominant1 test
  • Spastic paraplegia 33, autosomal dominant1 test
  • Spastic paraplegia 352 tests
  • Spastic paraplegia 4, autosomal dominant1 test
  • Spastic paraplegia 42, autosomal dominant1 test
  • Spastic paraplegia 48, autosomal recessive1 test
  • Spherocytosis type 11 test
  • Spherocytosis type 21 test
  • Spherocytosis type 31 test
  • Spherocytosis type 41 test
  • Spherocytosis type 51 test
  • Sphingolipid activator protein 1 deficiency1 test
  • Spinal muscular atrophy1 test
  • Spinal muscular atrophy with congenital bone fractures 11 test
  • Spinal muscular atrophy with congenital bone fractures 21 test
  • Spinal muscular atrophy, distal, autosomal recessive, 11 test
  • Spinal muscular atrophy, late-onset, finkel type1 test
  • Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1 test
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant1 test
  • Spinal muscular atrophy, X-linked 22 tests
  • Spinocerebellar ataxia 352 tests
  • Spinocerebellar ataxia 361 test
  • Spinocerebellar ataxia 371 test
  • Spinocerebellar ataxia 381 test
  • Spinocerebellar ataxia 401 test
  • Spinocerebellar ataxia 421 test
  • Spinocerebellar ataxia 441 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 102 tests
  • Spinocerebellar ataxia type 112 tests
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 132 tests
  • Spinocerebellar ataxia type 142 tests
  • Spinocerebellar Ataxia Type 152 tests
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 19/222 tests
  • Spinocerebellar ataxia type 21 test
  • Spinocerebellar ataxia type 211 test
  • Spinocerebellar ataxia type 231 test
  • Spinocerebellar ataxia type 261 test
  • Spinocerebellar ataxia type 272 tests
  • Spinocerebellar ataxia type 282 tests
  • Spinocerebellar ataxia type 291 test
  • Spinocerebellar ataxia type 311 test
  • Spinocerebellar ataxia type 341 test
  • Spinocerebellar ataxia type 52 tests
  • Spinocerebellar ataxia type 62 tests
  • Spinocerebellar ataxia, autosomal recessive 111 test
  • Spinocerebellar ataxia, autosomal recessive 121 test
  • Spinocerebellar ataxia, autosomal recessive 131 test
  • Spinocerebellar ataxia, autosomal recessive 151 test
  • Spinocerebellar ataxia, autosomal recessive 161 test
  • Spinocerebellar ataxia, autosomal recessive 171 test
  • Spinocerebellar ataxia, autosomal recessive 181 test
  • Spinocerebellar ataxia, autosomal recessive 21 test
  • Spinocerebellar ataxia, autosomal recessive 82 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22 tests
  • Spinocerebellar ataxia, X-linked 12 tests
  • Split hand-foot malformation 31 test
  • Split-hand/foot malformation 1 with sensorineural hearing loss2 tests
  • Split-hand/foot malformation 41 test
  • Split-hand/foot malformation 61 test
  • Spondylocarpotarsal synostosis syndrome1 test
  • Spondylocheirodysplasia, Ehlers-Danlos syndrome-like2 tests
  • Spondylocostal dysostosis 1, autosomal recessive1 test
  • Spondylocostal dysostosis 2, autosomal recessive1 test
  • Spondylocostal dysostosis 3, autosomal recessive1 test
  • Spondylocostal dysostosis 4, autosomal recessive1 test
  • Spondylocostal dysostosis 52 tests
  • Spondyloepiphyseal dysplasia tarda1 test
  • Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
  • Spondyloepiphyseal dysplasia, stanescu type2 tests
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Spongy degeneration of central nervous system1 test
  • Stargardt disease 11 test
  • Stargardt Disease 31 test
  • Stargardt disease 41 test
  • Steinert myotonic dystrophy syndrome1 test
  • Stickler syndrome2 tests
  • Stickler syndrome type 12 tests
  • Stickler syndrome type 22 tests
  • Stickler syndrome, type 42 tests
  • Stickler syndrome, type 52 tests
  • Sturge-Weber syndrome1 test
  • Stüve-Wiedemann syndrome1 test
  • Succinyl-CoA acetoacetate transferase deficiency1 test
  • Sucrase-isomaltase deficiency1 test
  • Supravalvar aortic stenosis1 test
  • Surfactant metabolism dysfunction, pulmonary, 11 test
  • Surfactant metabolism dysfunction, pulmonary, 22 tests
  • Surfactant metabolism dysfunction, pulmonary, 31 test
  • Symmetrical dyschromatosis of extremities1 test
  • Symphalangism-brachydactyly syndrome1 test
  • Syndactyly type 31 test
  • Syndactyly, type IV1 test
  • Syndromic microphthalmia type 52 tests
  • Syndromic X-linked intellectual disability Lubs type1 test
  • Syndromic X-linked intellectual disability Snyder type1 test
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
  • Tay-Sachs disease2 tests
  • Tay-Sachs disease, variant AB1 test
  • Temple syndrome1 test
  • Temtamy syndrome1 test
  • Testosterone 17-beta-dehydrogenase deficiency1 test
  • Tetralogy of Fallot1 test
  • Thanatophoric dysplasia type 11 test
  • Thanatophoric dysplasia, type 21 test
  • Thiopurine methyltransferase deficiency1 test
  • Three M syndrome 11 test
  • Three M syndrome 21 test
  • Thrombocythemia 12 tests
  • Thrombocythemia 31 test
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
  • Thrombocytosis, benign familial microcytic2 tests
  • Thrombophilia due to factor V Leiden1 test
  • Thrombophilia due to protein S deficiency, autosomal dominant1 test
  • Thrombophilia due to protein S deficiency, autosomal recessive1 test
  • Thrombophilia due to thrombin defect2 tests
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant1 test
  • Thyroglobulin synthesis defect2 tests
  • Thyroid dyshormonogenesis 12 tests
  • Thyroid dyshormonogenesis 61 test
  • Thyroid hormone resistance, generalized, autosomal dominant1 test
  • Thyrotoxic periodic paralysis 22 tests
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
  • Torsion dystonia 21 test
  • Torsion dystonia 61 test
  • Tourette syndrome1 test
  • Townes-Brocks syndrome 12 tests
  • Transcolabamin II deficiency1 test
  • Transferrin serum level quantitative trait locus 21 test
  • Transient neonatal diabetes mellitus 11 test
  • Transient neonatal diabetes mellitus 22 tests
  • Transient neonatal diabetes mellitus 31 test
  • Transposition of the great arteries1 test
  • Transposition of the great arteries, dextro-looped 13 tests
  • Transposition of the great arteries, dextro-looped 31 test
  • Treacher Collins syndrome 11 test
  • Treacher Collins syndrome 21 test
  • Treacher Collins syndrome 31 test
  • Tricho-dento-osseous syndrome1 test
  • Trichohepatoenteric syndrome 11 test
  • Trichohepatoenteric syndrome 21 test
  • Trichorhinophalangeal dysplasia type I1 test
  • Trichorhinophalangeal syndrome, type III1 test
  • Trichothiodystrophy1 test
  • Trichothiodystrophy 1, photosensitive1 test
  • Trichothiodystrophy 2, photosensitive1 test
  • Trichothiodystrophy 3, photosensitive1 test
  • Trimethylaminuria1 test
  • Troyer syndrome1 test
  • Truncus arteriosus communis1 test
  • Tuberous sclerosis 11 test
  • Tuberous sclerosis 21 test
  • Tuberous sclerosis syndrome1 test
  • Type 2 diabetes mellitus1 test
  • Type I complement component 8 deficiency1 test
  • Tyrosinase-positive oculocutaneous albinism2 tests
  • Tyrosinemia type 31 test
  • Tyrosinemia type I1 test
  • Tyrosinemia type II1 test
  • UDPglucose-4-epimerase deficiency1 test
  • Ullrich congenital muscular dystrophy1 test
  • Ullrich congenital muscular dystrophy 11 test
  • Ullrich congenital muscular dystrophy 21 test
  • Unverricht-Lundborg syndrome1 test
  • Upshaw-Schulman syndrome2 tests
  • Urinary bladder cancer1 test
  • Usher syndrome1 test
  • Usher syndrome type 11 test
  • Usher syndrome type 1D1 test
  • Usher syndrome type 1F1 test
  • Usher syndrome, type 1C1 test
  • Usher syndrome, type 1G1 test
  • Usher syndrome, type 2A1 test
  • Usher syndrome, type 2C1 test
  • Usher syndrome, type 2D1 test
  • Usher Syndrome, Type III1 test
  • VACTERL association with hydrocephalus1 test
  • Van Buchem disease type 21 test
  • van der Woude syndrome 11 test
  • Variegate porphyria1 test
  • Ventricular septal defect 22 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 23 tests
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness1 test
  • Very long chain acyl-CoA dehydrogenase deficiency2 tests
  • Visceral myopathy1 test
  • Vitamin B12-responsive methylmalonic acidemia type cblA2 tests
  • Vitamin B12-responsive methylmalonic acidemia type cblB1 test
  • Vitamin D-dependent rickets type II with alopecia1 test
  • Vitamin D-dependent rickets, type 11 test
  • Vitelliform macular dystrophy type 22 tests
  • Vitreoretinochoroidopathy1 test
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia1 test
  • Vitreoretinopathy, neovascular inflammatory1 test
  • Von Hippel-Lindau syndrome1 test
  • von Willebrand disorder1 test
  • Waardenburg syndrome1 test
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 21 test
  • Waardenburg syndrome type 2A1 test
  • Waardenburg syndrome type 2D1 test
  • Waardenburg syndrome type 2E1 test
  • Waardenburg syndrome type 4A1 test
  • Waardenburg syndrome type 4B1 test
  • Waardenburg syndrome type 4C1 test
  • Wagner syndrome2 tests
  • Walker-Warburg congenital muscular dystrophy1 test
  • Warburg micro syndrome 11 test
  • Warburg micro syndrome 21 test
  • Warburg micro syndrome 31 test
  • Warburg micro syndrome 41 test
  • Warfarin response1 test
  • Weaver syndrome1 test
  • Weill-Marchesani syndrome 11 test
  • Welander distal myopathy1 test
  • Werdnig-Hoffmann disease1 test
  • Werner syndrome1 test
  • West syndrome1 test
  • Wieacker-Wolff syndrome1 test
  • Wiedemann-Steiner syndrome1 test
  • Williams-Beuren region duplication syndrome1 test
  • Wilms tumor 11 test
  • Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome1 test
  • Wilson disease1 test
  • Wiskott-Aldrich syndrome1 test
  • Wolcott-Rallison dysplasia1 test
  • Wolff-Parkinson-White pattern1 test
  • Wolfram syndrome 11 test
  • Wolfram syndrome 21 test
  • Wooly hair2 tests
  • Worth disease1 test
  • X-linked agammaglobulinemia1 test
  • X-linked chondrodysplasia punctata 11 test
  • X-linked cone-rod dystrophy 21 test
  • X-linked cone-rod dystrophy 31 test
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked mental retardation with marfanoid habitus syndrome1 test
  • X-linked recessive nephrolithiasis with renal failure1 test
  • X-linked severe combined immunodeficiency1 test
  • X-linked severe congenital neutropenia1 test
  • X-linked sideroblastic anemia with ataxia2 tests
  • Xeroderma pigmentosum1 test
  • Xeroderma pigmentosum group A1 test
  • Xeroderma pigmentosum variant type1 test
  • Xeroderma pigmentosum, complementation group b1 test
  • Xeroderma pigmentosum, group C1 test
  • Xeroderma pigmentosum, group D1 test
  • Xeroderma pigmentosum, group E1 test
  • Xeroderma pigmentosum, group F1 test
  • Xeroderma pigmentosum, group G1 test
  • Yao syndrome1 test
  • Zinc deficiency, transient neonatal1 test

List of services

  • Carrier testing: Order Code: DG-CARR
  • Genetic counseling: Order Code: DG-GC
  • Maternal cell contamination study (MCC): Order Code: DG-MCC
  • Mutation Confirmation: Order Code: DG-MT
  • Clinical Testing/Confirmation of Mutations Identified Previously: Order Code: DG-MUT
  • Prenatal testing: Order Code: DG-PRN
  • Custom Sequence Analysis: Order Code: DG-SEQ
  • Uniparental Disomy (UPD) Testing: Order Code: DG-UPD
  • Identity Testing: Order Code: GF-ID

Participation in external programs

Data exchange Programs

  • ICCG (International Collaboration for Clinical Genetics) - Previously ISCA

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.

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