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Bioarray

GTR Lab ID: 505201, Last updated:2021-09-09

Personnel

Conditions and tests

  • 22q13.3 deletion syndrome1 test
  • 3 beta-Hydroxysteroid dehydrogenase deficiency1 test
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
  • 3MC syndrome 11 test
  • 3MC syndrome 21 test
  • 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy1 test
  • 46,XY partial gonadal dysgenesis1 test
  • 46,XY sex reversal, type 11 test
  • 46,XY sex reversal, type 31 test
  • 4p partial monosomy syndrome1 test
  • Aarskog syndrome2 tests
  • Abetalipoproteinaemia1 test
  • ABO blood group system1 test
  • Achondrogenesis type II2 tests
  • Achondrogenesis, type IB1 test
  • Achondroplasia2 tests
  • Achromatopsia1 test
  • Achromatopsia 22 tests
  • Achromatopsia 32 tests
  • Achromatopsia 42 tests
  • Acquired partial lipodystrophy1 test
  • Acrocephalosyndactyly type I1 test
  • Acroerythrokeratoderma1 test
  • Acute intermittent porphyria2 tests
  • Adams-Oliver syndrome 12 tests
  • Adams-Oliver syndrome 22 tests
  • Adrenocortical carcinoma1 test
  • Adrenocortical carcinoma, pediatric1 test
  • Adrenoleukodystrophy1 test
  • Afibrinogenemia3 tests
  • Afibrinogenemia, congenital3 tests
  • Age-related macular degeneration1 test
  • Agenesis of the corpus callosum with peripheral neuropathy2 tests
  • Aicardi Goutieres syndrome 12 tests
  • Aicardi Goutieres syndrome 22 tests
  • Aicardi Goutieres syndrome 32 tests
  • Aicardi Goutieres syndrome 42 tests
  • Aicardi Goutieres syndrome 51 test
  • Aicardi syndrome2 tests
  • Alagille syndrome 12 tests
  • Alagille syndrome 21 test
  • Albinism, ocular, with sensorineural deafness2 tests
  • Alexander Disease1 test
  • Alkaptonuria1 test
  • Alopecia universalis congenita1 test
  • alpha Thalassemia2 tests
  • Alpha thalassemia-X-linked intellectual disability syndrome1 test
  • Alpha-1-antitrypsin deficiency1 test
  • Alport syndrome 1, X-linked recessive2 tests
  • Alport syndrome 3, autosomal dominant1 test
  • Alport syndrome, autosomal recessive1 test
  • Alstrom syndrome4 tests
  • Alternating hemiplegia of childhood 11 test
  • Alternating hemiplegia of childhood 22 tests
  • Alzheimer disease3 tests
  • Alzheimer disease 21 test
  • Alzheimer disease, type 31 test
  • Alzheimer disease, type 42 tests
  • Amelogenesis imperfecta1 test
  • Amelogenesis imperfecta, type 1E1 test
  • Amyloidogenic transthyretin amyloidosis2 tests
  • Amyotrophic lateral sclerosis6 tests
  • Amyotrophic lateral sclerosis 172 tests
  • Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia2 tests
  • Amyotrophic lateral sclerosis type 92 tests
  • Andersen Tawil syndrome1 test
  • Androgen resistance syndrome1 test
  • Anemia without thromobocytopenia, X-linked1 test
  • Anemia, sideroblastic, 11 test
  • Angelman syndrome3 tests
  • Aniridia 11 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
  • Antley-Bixler syndrome1 test
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
  • Aortic aneurysm, familial thoracic 42 tests
  • Aortic aneurysm, familial thoracic 61 test
  • Aortic aneurysm, familial thoracic 71 test
  • Apolipoprotein C2 deficiency1 test
  • Apparent mineralocorticoid excess3 tests
  • Arginase deficiency1 test
  • Aromatase deficiency1 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 101 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 111 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 121 test
  • Arrhythmogenic right ventricular dysplasia 91 test
  • Arrhythmogenic right ventricular dysplasia, familial, 21 test
  • Arterial calcification, generalized, of infancy, 11 test
  • Arterial tortuosity syndrome1 test
  • Arteriohepatic dysplasia1 test
  • Asperger syndrome X-linked 11 test
  • Asphyxiating thoracic dystrophy 21 test
  • Asphyxiating thoracic dystrophy 41 test
  • Asphyxiating thoracic dystrophy 51 test
  • Ataxia-oculomotor apraxia type 11 test
  • Ataxia-telangiectasia syndrome1 test
  • Ateleiotic dwarfism1 test
  • Atrial septal defect 21 test
  • Atrial septal defect 7 with or without atrioventricular conduction defects1 test
  • Atrioventricular septal defect 41 test
  • Atrophia bulborum hereditaria1 test
  • Atypical hemolytic-uremic syndrome 11 test
  • Atypical hemolytic-uremic syndrome 22 tests
  • Atypical hemolytic-uremic syndrome 41 test
  • Autoimmune lymphoproliferative syndrome1 test
  • Autoimmune lymphoproliferative syndrome, type 1b1 test
  • Autoimmune lymphoproliferative syndrome, type 2A1 test
  • Autoimmune thyroid disease 31 test
  • Autosomal dominant distal renal tubular acidosis1 test
  • Autosomal dominant hypophosphatemic rickets2 tests
  • Autosomal dominant medullary cystic kidney disease with hyperuricemia1 test
  • Autosomal dominant optic atrophy classic form1 test
  • Autosomal dominant osteopetrosis 21 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 11 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 31 test
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 41 test
  • Autosomal dominant pseudohypoaldosteronism type 11 test
  • Autosomal hypohidrotic ectodermal dysplasia2 tests
  • Autosomal recessive congenital ichthyosis 11 test
  • Autosomal recessive congenital ichthyosis 101 test
  • Autosomal recessive congenital ichthyosis 21 test
  • Autosomal recessive congenital ichthyosis 31 test
  • Autosomal recessive congenital ichthyosis 4A1 test
  • Autosomal recessive congenital ichthyosis 4B1 test
  • Autosomal recessive congenital ichthyosis 51 test
  • Autosomal recessive congenital ichthyosis 61 test
  • Autosomal recessive cutis laxa type 1B1 test
  • Autosomal recessive cutis laxa type IA1 test
  • Autosomal recessive DOPA responsive dystonia1 test
  • Autosomal recessive Kenny-Caffey syndrome1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive osteopetrosis 11 test
  • Autosomal recessive osteopetrosis 21 test
  • Autosomal recessive osteopetrosis 41 test
  • Autosomal recessive polycystic kidney disease1 test
  • Autosomal recessive pseudohypoaldosteronism type 13 tests
  • Axenfeld-Rieger syndrome type 13 tests
  • Azorean disease1 test
  • Bardet-Biedl syndrome4 tests
  • Bare lymphocyte syndrome 24 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
  • Bartter syndrome, type 4b1 test
  • Beaded hair2 tests
  • Becker muscular dystrophy1 test
  • Beckwith-Wiedemann syndrome3 tests
  • Benign familial neonatal seizures4 tests
  • Benign familial neonatal seizures 21 test
  • Benign recurrent intrahepatic cholestasis type 21 test
  • Benign Rolandic epilepsy1 test
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy3 tests
  • Bestrophinopathy, autosomal recessive1 test
  • beta Thalassemia1 test
  • Bethlem myopathy 13 tests
  • Bicuspid aortic valve1 test
  • Bifunctional peroxisomal enzyme deficiency1 test
  • Biotin-responsive basal ganglia disease1 test
  • Biotinidase deficiency1 test
  • Blau syndrome1 test
  • Blepharophimosis, ptosis, and epicanthus inversus1 test
  • Bloom syndrome1 test
  • Body mass index quantitative trait locus 91 test
  • Borjeson-Forssman-Lehmann syndrome1 test
  • Brachydactyly type B21 test
  • Brachydactyly type E12 tests
  • Brachyrachia (short spine dysplasia)1 test
  • Brain small vessel disease 1 with or without ocular anomalies1 test
  • Branchiooculofacial syndrome1 test
  • Branchiootorenal Syndrome 12 tests
  • Breast-ovarian cancer, familial 11 test
  • Breast-ovarian cancer, familial 21 test
  • Breast-ovarian cancer, familial 31 test
  • Bruck syndrome 21 test
  • Brugada syndrome 11 test
  • Brugada syndrome 21 test
  • Brugada syndrome 31 test
  • Brugada syndrome 41 test
  • Brugada syndrome 51 test
  • Brugada syndrome 61 test
  • Brugada syndrome 71 test
  • Brugada syndrome 81 test
  • Bullous ichthyosiform erythroderma2 tests
  • C syndrome2 tests
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1 test
  • Camptomelic dysplasia3 tests
  • CARASIL syndrome1 test
  • Cardiac arrhythmia, ankyrin B-related1 test
  • Cardiofaciocutaneous syndrome 11 test
  • Cardiomyopathy, dilated, 1u1 test
  • Carney complex, type 11 test
  • Carnitine palmitoyltransferase 1A deficiency1 test
  • Carnitine palmitoyltransferase II deficiency1 test
  • Cataract 111 test
  • Cataract 181 test
  • Cataract 401 test
  • Catecholaminergic polymorphic ventricular tachycardia type 11 test
  • Caudal regression sequence1 test
  • Central core myopathy1 test
  • Cerebral amyloid angiopathy3 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11 test
  • Cerebral cavernous malformation2 tests
  • Cerebral cavernous malformations 21 test
  • Cerebral cavernous malformations 31 test
  • Cerebral folate transport deficiency1 test
  • Cerebroretinal microangiopathy with calcifications and cysts 11 test
  • Ceroid lipofuscinosis neuronal 21 test
  • CFHR5 deficiency1 test
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease axonal type 2C1 test
  • Charcot-Marie-Tooth disease axonal type 2F1 test
  • Charcot-Marie-Tooth disease axonal type 2K2 tests
  • Charcot-Marie-Tooth disease type 2B1 test
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 2B21 test
  • Charcot-Marie-Tooth disease type 2D1 test
  • Charcot-Marie-Tooth disease type 2E1 test
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 2P1 test
  • Charcot-Marie-Tooth disease, axonal, type 2O1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1b1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1d1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 1f1 test
  • Charcot-Marie-Tooth disease, demyelinating, type 4F1 test
  • Charcot-Marie-Tooth disease, dominant intermediate B1 test
  • Charcot-Marie-Tooth disease, type 1C1 test
  • Charcot-Marie-Tooth disease, type 2A11 test
  • Charcot-Marie-Tooth disease, type 2A2A1 test
  • Charcot-Marie-Tooth disease, type 2L2 tests
  • Charcot-Marie-Tooth disease, type 2N2 tests
  • Charcot-Marie-Tooth disease, type 4A1 test
  • Charcot-Marie-Tooth disease, type 4B11 test
  • Charcot-Marie-Tooth disease, type 4C1 test
  • Charcot-Marie-Tooth disease, type 4D1 test
  • Charcot-Marie-Tooth disease, type IA1 test
  • Charcot-Marie-Tooth disease, X-linked recessive, type 51 test
  • Charcot-Marie-Tooth Neuropathy X Type 11 test
  • CHARGE association1 test
  • Charlevoix-Saguenay spastic ataxia1 test
  • Child syndrome1 test
  • Childhood hypophosphatasia1 test
  • Cholestanol storage disease1 test
  • Cholestasis, progressive familial intrahepatic 11 test
  • Chondrodysplasia punctata 2 X-linked dominant1 test
  • Chorea, benign familial1 test
  • Choreoacanthocytosis1 test
  • Choroideremia1 test
  • Chromosomal anomaly1 test
  • Chromosome 1q41-q42 deletion syndrome1 test
  • Chronic granulomatous disease3 tests
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chudley-McCullough syndrome1 test
  • Chédiak-Higashi syndrome1 test
  • Ciliary dyskinesia, primary, 33 tests
  • Citrullinemia type I1 test
  • Citrullinemia type II1 test
  • CK syndrome1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
  • Classic homocystinuria1 test
  • Cleidocranial dysostosis2 tests
  • Cobalamin C disease1 test
  • Cockayne syndrome B1 test
  • Cockayne syndrome type A1 test
  • Coenzyme Q10 deficiency, primary, 41 test
  • Coffin-Lowry syndrome1 test
  • Coffin-Siris syndrome 12 tests
  • Cohen syndrome2 tests
  • Combined saposin deficiency1 test
  • Common variable agammaglobulinemia1 test
  • Complement component 3 deficiency, autosomal recessive1 test
  • Complement factor B deficiency1 test
  • Complete androgen insensitivity syndrome1 test
  • Cone dystrophy 31 test
  • Cone dystrophy 41 test
  • Congenital adrenal hyperplasia2 tests
  • Congenital adrenal hypoplasia, X-linked2 tests
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital chromosomal disease1 test
  • Congenital contractural arachnodactyly1 test
  • Congenital disorder of glycosylation type 1C1 test
  • Congenital disorder of glycosylation, type Ia1 test
  • Congenital dyserythropoietic anemia, type I1 test
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital fibrosis of extraocular muscles1 test
  • Congenital generalized lipodystrophy type 11 test
  • Congenital generalized lipodystrophy type 21 test
  • Congenital glucose-galactose malabsorption1 test
  • Congenital hereditary endothelial dystrophy of the cornea1 test
  • Congenital hypomyelinating neuropathy 1, autosomal recessive3 tests
  • Congenital lactase deficiency1 test
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51 test
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A41 test
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B61 test
  • Congenital muscular hypertrophy-cerebral syndrome1 test
  • Congenital myopathy with fiber type disproportion3 tests
  • Congenital myotonia, autosomal dominant form1 test
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Cornelia de Lange syndrome 11 test
  • Cornelia de Lange syndrome 31 test
  • Corticosterone 18-monooxygenase deficiency1 test
  • Costello syndrome1 test
  • Cowden syndrome2 tests
  • Craniofacial-ulnar-renal syndrome1 test
  • Craniofrontonasal syndrome1 test
  • Craniometaphyseal dysplasia1 test
  • Craniosynostosis 21 test
  • Creatine transporter deficiency1 test
  • Creutzfeldt-Jakob Disease, Familial1 test
  • Crigler-Najjar syndrome1 test
  • Crouzon syndrome1 test
  • Crouzon syndrome with acanthosis nigricans1 test
  • Currarino triad1 test
  • Cutaneous malignant melanoma 21 test
  • Cutaneous malignant melanoma 31 test
  • Cutis laxa with osteodystrophy1 test
  • Cutis laxa, autosomal dominant 11 test
  • Cyclical neutropenia1 test
  • Cystic fibrosis2 tests
  • Cystinuria2 tests
  • D-2-hydroxyglutaric aciduria 11 test
  • De Lange syndrome1 test
  • Deafness dystonia syndrome2 tests
  • Deafness, autosomal dominant 101 test
  • Deafness, autosomal dominant 121 test
  • Deafness, autosomal dominant 2b1 test
  • Deafness, autosomal dominant 91 test
  • Deafness, autosomal recessive 1A1 test
  • Deafness, autosomal recessive 91 test
  • Deafness, nonsyndromic sensorineural, mitochondrial5 tests
  • Deficiency of acetyl-CoA acetyltransferase1 test
  • Deficiency of alpha-mannosidase1 test
  • Deficiency of butyryl-CoA dehydrogenase3 tests
  • Deficiency of butyrylcholine esterase1 test
  • Deficiency of ferroxidase2 tests
  • Deficiency of galactokinase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of iodide peroxidase1 test
  • Deficiency of isobutyryl-CoA dehydrogenase1 test
  • Deficiency of pyrroline-5-carboxylate reductase1 test
  • Deficiency of steroid 17-alpha-monooxygenase2 tests
  • Dejerine-Sottas disease2 tests
  • Dent disease1 test
  • Dentatorubral-pallidoluysian atrophy1 test
  • Dentinogenesis imperfecta type 21 test
  • Desbuquois dysplasia 11 test
  • Developmental anomaly of metabolic origin1 test
  • Developmental delay1 test
  • Developmental malformations-deafness-dystonia syndrome1 test
  • Diabetes mellitus type 11 test
  • Diamond-Blackfan anemia2 tests
  • Diamond-Blackfan anemia 11 test
  • Diamond-Blackfan anemia 101 test
  • Diamond-Blackfan anemia 31 test
  • Diamond-Blackfan anemia 41 test
  • Diamond-Blackfan anemia 51 test
  • Diamond-Blackfan anemia 61 test
  • Diamond-Blackfan anemia 72 tests
  • Diamond-Blackfan anemia 92 tests
  • Diarrhea 4, malabsorptive, congenital1 test
  • Diarrhea 5, with tufting enteropathy, congenital1 test
  • Diastrophic dysplasia1 test
  • DiGeorge Syndrome1 test
  • Digital clubbing, isolated congenital1 test
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy 1A1 test
  • Dilated cardiomyopathy 1C1 test
  • Dilated cardiomyopathy 1E1 test
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1FF1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1HH1 test
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1J1 test
  • Dilated cardiomyopathy 1L1 test
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R1 test
  • Dilated cardiomyopathy 1S1 test
  • Dilated cardiomyopathy 1T1 test
  • Dilated cardiomyopathy 1V1 test
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1X1 test
  • Dilated cardiomyopathy 1Y1 test
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy 3B1 test
  • Dilated cardiomyopathy with woolly hair and keratoderma1 test
  • Distal arthrogryposis type 2B1 test
  • Distal hereditary motor neuronopathy type 51 test
  • Distichiasis-lymphedema syndrome1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
  • Doyne honeycomb retinal dystrophy1 test
  • Duane-radial ray syndrome1 test
  • Dubin-Johnson syndrome2 tests
  • Duchenne muscular dystrophy1 test
  • Dyskeratosis congenita, autosomal dominant 11 test
  • Dyskeratosis congenita, autosomal dominant, 21 test
  • Dyskeratosis congenita, autosomal dominant, 31 test
  • Dyskeratosis congenita, X-linked2 tests
  • Dystonia 11 test
  • Dystonia 161 test
  • Dystonia 52 tests
  • Dystonia 91 test
  • Early infantile epileptic encephalopathy 122 tests
  • Early infantile epileptic encephalopathy 131 test
  • Early infantile epileptic encephalopathy 21 test
  • Early infantile epileptic encephalopathy 42 tests
  • Early infantile epileptic encephalopathy 91 test
  • EAST syndrome1 test
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal1 test
  • Ectopia lentis et pupillae1 test
  • Ectopia lentis, isolated, autosomal dominant1 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 31 test
  • EEM syndrome1 test
  • Ehlers-Danlos syndrome dermatosparaxis type1 test
  • Ehlers-Danlos syndrome, cardiac valvular type1 test
  • Ehlers-Danlos syndrome, classic type4 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient2 tests
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, type 34 tests
  • Ehlers-Danlos syndrome, type 41 test
  • Elliptocytosis 11 test
  • Elliptocytosis 21 test
  • Elliptocytosis 31 test
  • Elliptocytosis 41 test
  • Ellis-van Creveld syndrome1 test
  • Emery-Dreifuss muscular dystrophy 1, X-linked1 test
  • Encephalopathy, acute, infection-induced, 3, suceptibility to1 test
  • Endplate acetylcholinesterase deficiency1 test
  • EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 12 tests
  • Epidermolysis bullosa junctionalis with pyloric atresia1 test
  • Epidermolysis bullosa simplex1 test
  • Epidermolysis bullosa simplex with mottled pigmentation1 test
  • Epidermolysis bullosa simplex with muscular dystrophy1 test
  • Epidermolysis bullosa simplex, autosomal recessive2 tests
  • Epidermolytic palmoplantar keratoderma4 tests
  • Epilepsy1 test
  • Epilepsy, nocturnal frontal lobe, type 11 test
  • Epilepsy, nocturnal frontal lobe, type 21 test
  • Epilepsy, nocturnal frontal lobe, type 31 test
  • Epilepsy, nocturnal frontal lobe, type 41 test
  • Epilepsy, progressive myoclonic 31 test
  • Epileptic encephalopathy Lennox-Gastaut type1 test
  • Epiphyseal dysplasia, multiple, 21 test
  • Epiphyseal dysplasia, multiple, 31 test
  • Episodic ataxia type 12 tests
  • Episodic ataxia type 22 tests
  • Episodic ataxia, type 51 test
  • Episodic ataxia, type 61 test
  • Episodic kinesigenic dyskinesia 12 tests
  • Erythrokeratodermia variabilis et progressiva 11 test
  • Essential hypertension1 test
  • Ethylmalonic encephalopathy1 test
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis1 test
  • Exudative retinopathy1 test
  • Exudative vitreoretinopathy 41 test
  • Fabry disease2 tests
  • Factor H deficiency1 test
  • Factor VII deficiency1 test
  • Factor XII deficiency disease1 test
  • 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 cancer of breast1 test
  • Familial cold autoinflammatory syndrome 11 test
  • Familial cold autoinflammatory syndrome 21 test
  • Familial dysautonomia1 test
  • Familial erythrocytosis1 test
  • Familial exudative vitreoretinopathy2 tests
  • Familial exudative vitreoretinopathy, X-linked1 test
  • Familial hemiplegic migraine type 11 test
  • Familial hemiplegic migraine type 21 test
  • Familial hemiplegic migraine type 31 test
  • Familial hemophagocytic lymphohistiocytosis 21 test
  • Familial hemophagocytic lymphohistiocytosis 31 test
  • Familial hemophagocytic lymphohistiocytosis 41 test
  • Familial hyperaldosteronism type 31 test
  • Familial hypercholesterolemia 11 test
  • Familial hypercholesterolemia 21 test
  • Familial hypercholesterolemia 31 test
  • Familial hypercholesterolemia 41 test
  • Familial hyperinsulinism1 test
  • Familial hypertriglyceridemia3 tests
  • Familial hypertrophic cardiomyopathy 61 test
  • Familial hypobetalipoproteinemia2 tests
  • Familial hypocalciuric hypercalcemia1 test
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial infantile myasthenia1 test
  • Familial isolated deficiency of vitamin E1 test
  • Familial juvenile hyperuricemic nephropathy type 11 test
  • Familial Mediterranean fever1 test
  • Familial medullary thyroid carcinoma2 tests
  • Familial platelet disorder with associated myeloid malignancy1 test
  • Familial porphyria cutanea tarda1 test
  • Familial prostate carcinoma1 test
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial renal glucosuria1 test
  • Familial temporal lobe epilepsy 11 test
  • Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
  • Fanconi anemia, complementation group A1 test
  • Fanconi anemia, complementation group B1 test
  • Fanconi anemia, complementation group C1 test
  • Fanconi anemia, complementation group G1 test
  • Fanconi-Bickel syndrome1 test
  • Fatal familial insomnia1 test
  • Feingold syndrome1 test
  • FG syndrome 11 test
  • Fibrous dysplasia of jaw1 test
  • Fibular hypoplasia and complex brachydactyly1 test
  • Finnish congenital nephrotic syndrome3 tests
  • Floating-Harbor syndrome1 test
  • Focal cortical dysplasia type II1 test
  • Focal dermal hypoplasia1 test
  • Focal facial dermal dysplasia 3, Setleis type1 test
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 71 test
  • Follicular lymphoma 11 test
  • Fragile X syndrome1 test
  • Fragile X tremor/ataxia syndrome1 test
  • Fraser syndrome 12 tests
  • Freeman-Sheldon syndrome2 tests
  • Friedreich ataxia2 tests
  • Frontonasal dysplasia 11 test
  • Frontonasal dysplasia 21 test
  • Frontonasal dysplasia 31 test
  • Frontotemporal dementia3 tests
  • Fructose-biphosphatase deficiency1 test
  • Fumarase deficiency2 tests
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Gastrointestinal stromal tumor1 test
  • Gaucher disease type 3C1 test
  • Gaucher disease type II1 test
  • Gaucher disease, perinatal lethal1 test
  • Gaze palsy, familial horizontal, with progressive scoliosis 11 test
  • Geleophysic dysplasia 11 test
  • Gemcitabine response1 test
  • Generalized dominant dystrophic epidermolysis bullosa1 test
  • Generalized epilepsy with febrile seizures plus 31 test
  • Generalized epilepsy with febrile seizures plus type 51 test
  • Generalized epilepsy with febrile seizures plus, type 11 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 syndrome2 tests
  • Gerstmann-Straussler-Scheinker syndrome1 test
  • Giant axonal neuropathy 11 test
  • Gilbert syndrome1 test
  • Glanzmann thrombasthenia2 tests
  • Glaucoma 1, open angle, A1 test
  • Glaucoma 1, open angle, G1 test
  • Glaucoma 3, primary infantile, b1 test
  • Glucocorticoid resistance, generalized1 test
  • Glucose 6 phosphate dehydrogenase deficiency1 test
  • Glucose-6-phosphate transport defect1 test
  • GLUT1 deficiency syndrome 21 test
  • Glutaric aciduria, type 11 test
  • Gluthathione synthetase deficiency1 test
  • Glycogen phosphorylase kinase deficiency1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
  • Glycogen storage disease due to muscle beta-enolase deficiency1 test
  • Glycogen storage disease IXb1 test
  • Glycogen storage disease IXd1 test
  • Glycogen storage disease type III1 test
  • Glycogen storage disease type X1 test
  • Glycogen storage disease, type I1 test
  • Glycogen storage disease, type II1 test
  • Glycogen storage disease, type IV1 test
  • Glycogen storage disease, type V1 test
  • Glycogen storage disease, type VI1 test
  • Glycogen storage disease, type VII1 test
  • Gorlin syndrome1 test
  • Griscelli syndrome type 11 test
  • Growth delay due to insulin-like growth factor type 1 deficiency1 test
  • Haddad syndrome1 test
  • Hajdu-Cheney syndrome1 test
  • Hay-Wells syndrome of ectodermal dysplasia1 test
  • Hb SS disease1 test
  • Hecht syndrome1 test
  • Hemochromatosis type 11 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemochromatosis type 51 test
  • Hemolytic anemia due to hexokinase deficiency1 test
  • Hemophagocytic lymphohistiocytosis, familial, 51 test
  • Hemorrhage, intracerebral, susceptibility to2 tests
  • Hepatic methionine adenosyltransferase deficiency1 test
  • Hereditary acrodermatitis enteropathica2 tests
  • Hereditary amyloidosis1 test
  • Hereditary angioneurotic edema2 tests
  • Hereditary coproporphyria1 test
  • Hereditary diffuse gastric cancer1 test
  • Hereditary diffuse leukoencephalopathy with spheroids1 test
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary fructosuria1 test
  • Hereditary hemorrhagic telangiectasia type 12 tests
  • Hereditary hyperferritinemia with congenital cataracts1 test
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary lymphedema type I1 test
  • Hereditary nonpolyposis colorectal cancer type 51 test
  • Hereditary nonpolyposis colorectal cancer type 81 test
  • Hereditary pancreatitis3 tests
  • Hereditary sensory and autonomic neuropathy type 11 test
  • Hereditary sensory and autonomic neuropathy type IC1 test
  • Hereditary spastic paraplegia 101 test
  • Hereditary spastic paraplegia 121 test
  • Hereditary spastic paraplegia 131 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 xanthinuria type 11 test
  • Hermansky-Pudlak syndrome1 test
  • Heterotaxy, visceral, 1, X-linked1 test
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal1 test
  • Hidrotic ectodermal dysplasia syndrome1 test
  • Histiocytic medullary reticulosis3 tests
  • Histiocytosis-lymphadenopathy plus syndrome1 test
  • Holoprosencephaly 111 test
  • Holoprosencephaly 21 test
  • Holoprosencephaly 31 test
  • Holoprosencephaly 41 test
  • Holoprosencephaly 51 test
  • Holoprosencephaly 71 test
  • Holoprosencephaly 81 test
  • Holoprosencephaly 91 test
  • Holoprosencephaly sequence5 tests
  • Holt-Oram syndrome1 test
  • Homocystinuria due to MTHFR deficiency1 test
  • Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1 test
  • Huntington disease1 test
  • Huntington disease-like 11 test
  • Hyaline fibromatosis syndrome1 test
  • Hydatidiform mole, recurrent, 11 test
  • Hydatidiform mole, recurrent, 21 test
  • Hydrolethalus syndrome 11 test
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
  • Hyper-IgM syndrome type 11 test
  • Hyper-IgM syndrome type 21 test
  • Hyperaldosteronism, familial, type I1 test
  • Hyperalphalipoproteinemia 21 test
  • Hyperekplexia 11 test
  • Hyperekplexia 21 test
  • Hyperekplexia 31 test
  • Hyperimmunoglobulin D with periodic fever1 test
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive2 tests
  • Hyperinsulinemic hypoglycemia, familial, 11 test
  • Hyperinsulinism-hyperammonemia syndrome1 test
  • Hyperlipoproteinemia, type I2 tests
  • Hyperparathyroidism 21 test
  • Hyperphenylalaninemia, BH4-deficient, D1 test
  • Hyperphosphatemic familial tumoral calcinosis 12 tests
  • Hyperthyroidism, nonautoimmune1 test
  • Hypertrichotic osteochondrodysplasia Cantu type1 test
  • Hypertrophic cardiomyopathy 251 test
  • Hypochondroplasia1 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 4 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 5 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 7 with or without anosmia1 test
  • Hypohidrotic X-linked ectodermal dysplasia1 test
  • Hypokalemic periodic paralysis 11 test
  • Hypokalemic periodic paralysis, type 21 test
  • Hypomagnesemia 1, intestinal1 test
  • Hypomyelinating leukodystrophy 71 test
  • Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1 test
  • Hypomyelination and Congenital Cataract1 test
  • Hypoparathyroidism, deafness, renal disease syndrome1 test
  • Hypoparathyroidism-retardation-dysmorphism syndrome1 test
  • Hypoplastic left heart syndrome 11 test
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
  • Ichthyosis bullosa of Siemens1 test
  • Ichthyosis vulgaris1 test
  • Idiopathic nephrotic syndrome3 tests
  • Idiopathic Pulmonary Fibrosis1 test
  • IFAP syndrome with or without BRESHECK syndrome1 test
  • Incontinentia pigmenti syndrome1 test
  • Infantile GM1 gangliosidosis1 test
  • Infantile neuroaxonal dystrophy1 test
  • Infantile nystagmus, X-linked1 test
  • Inflammatory bowel disease 11 test
  • Inflammatory skin and bowel disease, neonatal, 21 test
  • Irido-corneo-trabecular dysgenesis2 tests
  • Isolated growth hormone deficiency type IB1 test
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Johanson-Blizzard syndrome1 test
  • Joubert syndrome 11 test
  • Joubert syndrome 101 test
  • Joubert syndrome 121 test
  • Joubert syndrome 21 test
  • Joubert syndrome 31 test
  • Joubert syndrome 42 tests
  • 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 Herlitz3 tests
  • Junctional epidermolysis bullosa, non-Herlitz type4 tests
  • Juvenile myoclonic epilepsy2 tests
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke2 tests
  • Juvenile retinoschisis1 test
  • Kabuki syndrome2 tests
  • Kabuki syndrome 11 test
  • Kartagener syndrome1 test
  • Kennedy disease2 tests
  • Keratosis follicularis1 test
  • Keratosis palmoplantaris striata 31 test
  • Keratosis palmoplantaris striata II1 test
  • Klippel-Feil syndrome 1, autosomal dominant1 test
  • Klippel-Feil syndrome 2, autosomal recessive1 test
  • Koolen-de Vries syndrome1 test
  • Kostmann syndrome2 tests
  • Kufor-Rakeb syndrome1 test
  • Laron-type isolated somatotropin defect1 test
  • Larsen syndrome1 test
  • LCAT deficiency1 test
  • Leber congenital amaurosis3 tests
  • Leber congenital amaurosis 11 test
  • Leber congenital amaurosis 131 test
  • Leber congenital amaurosis 141 test
  • Leber congenital amaurosis 21 test
  • Leber congenital amaurosis 91 test
  • Leber hereditary optic neuropathy1 test
  • Left ventricular noncompaction 61 test
  • Left-right axis malformations1 test
  • Legius syndrome1 test
  • Leigh syndrome1 test
  • Lenz microphthalmia syndrome1 test
  • LEOPARD syndrome 11 test
  • LEOPARD syndrome 21 test
  • Leprechaunism syndrome1 test
  • Leptin deficiency or dysfunction1 test
  • Leptin receptor deficiency1 test
  • Leri-Weill dyschondrosteosis1 test
  • Lesch-Nyhan syndrome1 test
  • Lethal congenital contracture syndrome 11 test
  • Lethal congenital contracture syndrome 51 test
  • Lethal multiple pterygium syndrome3 tests
  • Leukocyte adhesion deficiency 11 test
  • Leukodystrophy, hypomyelinating, 21 test
  • Leukodystrophy, hypomyelinating, 41 test
  • Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
  • Leukoencephalopathy with vanishing white matter5 tests
  • Leydig cell hypoplasia, type 11 test
  • Li-Fraumeni syndrome 11 test
  • Liddle syndrome 12 tests
  • Liebenberg syndrome1 test
  • Limb-girdle muscular dystrophy, type 2A1 test
  • Limb-girdle muscular dystrophy, type 2J1 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C51 test
  • Lissencephaly 2, X-linked1 test
  • Lissencephaly 41 test
  • Lissencephaly due to LIS1 mutation1 test
  • Lissencephaly, X-linked2 tests
  • Loeys-Dietz syndrome 13 tests
  • Loeys-Dietz syndrome 22 tests
  • Loeys-Dietz syndrome 31 test
  • Long QT syndrome 13 tests
  • Long QT syndrome 101 test
  • Long QT syndrome 111 test
  • Long QT syndrome 121 test
  • Long QT syndrome 131 test
  • Long QT syndrome 21 test
  • Long QT syndrome 32 tests
  • Long QT syndrome 52 tests
  • Long QT syndrome 62 tests
  • Long QT syndrome 91 test
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
  • Lowe syndrome1 test
  • Lung carcinoma2 tests
  • Lymphoproliferative syndrome 1, X-linked1 test
  • Lymphoproliferative syndrome 2, X-linked1 test
  • Lynch syndrome I3 tests
  • Lynch syndrome II2 tests
  • Lysosomal acid lipase deficiency2 tests
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Macular dystrophy, vitelliform, adult-onset2 tests
  • Malignant hyperthermia1 test
  • Mantle cell lymphoma1 test
  • Maple syrup urine disease2 tests
  • Marfan syndrome2 tests
  • Marfan Syndrome type 21 test
  • Marinesco-Sjögren syndrome1 test
  • Marshall syndrome1 test
  • Marshall-Smith syndrome1 test
  • Matthew-Wood syndrome1 test
  • Maturity-onset diabetes of the young, type 11 test
  • Maturity-onset diabetes of the young, type 21 test
  • Maturity-onset diabetes of the young, type 31 test
  • McCune-Albright syndrome1 test
  • McKusick-Kaufman 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
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts1 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
  • Meier-Gorlin syndrome 11 test
  • Melorheostosis1 test
  • Menkes kinky-hair syndrome1 test
  • Mental retardation with panhypopituitarism, X-linked1 test
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1 test
  • Mental retardation, autosomal dominant 142 tests
  • Mental retardation, autosomal dominant 161 test
  • Mental retardation, autosomal dominant 51 test
  • Mental retardation, with or without seizures, ARX-related, X-linked1 test
  • Mental retardation, X-linked, syndromic, Hedera type1 test
  • Merosin deficient congenital muscular dystrophy2 tests
  • MERRF syndrome1 test
  • Metabolic disease1 test
  • Metabolic myopathy1 test
  • Metachromatic leukodystrophy1 test
  • Metaphyseal chondrodysplasia, McKusick type1 test
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Metaphyseal dysplasia without hypotrichosis1 test
  • Methylcobalamin deficiency type cblG1 test
  • Methylcrotonyl-CoA carboxylase deficiency1 test
  • Methylmalonic acidemia with homocystinuria cblD1 test
  • Methylmalonic aciduria and homocystinuria type cblF1 test
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2 tests
  • Methylmalonyl-CoA epimerase deficiency1 test
  • Microcephalic osteodysplastic primordial dwarfism type II1 test
  • Microcephaly, normal intelligence and immunodeficiency2 tests
  • Microcytic anemia1 test
  • Microphthalmia, isolated 21 test
  • Microphthalmia, isolated 51 test
  • Microphthalmia, isolated 61 test
  • Microphthalmia, isolated 71 test
  • Microphthalmia, isolated, with coloboma 31 test
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral1 test
  • Mitochondrial trifunctional protein deficiency1 test
  • Miyoshi muscular dystrophy 11 test
  • Molybdenum cofactor deficiency, complementation group B1 test
  • Mowat-Wilson syndrome1 test
  • MPI-CDG1 test
  • Mucopolysaccharidosis type 61 test
  • Mucopolysaccharidosis type 71 test
  • Mucopolysaccharidosis, MPS-I-H/S1 test
  • Mucopolysaccharidosis, MPS-II1 test
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-III-B1 test
  • Mucopolysaccharidosis, MPS-III-C1 test
  • Mucopolysaccharidosis, MPS-III-D1 test
  • Mucopolysaccharidosis, MPS-IV-A1 test
  • Mucopolysaccharidosis, MPS-IV-B1 test
  • Muenke syndrome1 test
  • Muir-Torré syndrome1 test
  • Mullerian aplasia and hyperandrogenism1 test
  • Multiple acyl-CoA dehydrogenase deficiency3 tests
  • Multiple congenital exostosis1 test
  • 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 13 tests
  • Multiple epiphyseal dysplasia 61 test
  • Multiple epiphyseal dysplasia type 41 test
  • Multiple epiphyseal dysplasia type 51 test
  • Multiple exostoses type 21 test
  • Multiple fibrofolliculomas1 test
  • Multiple synostoses syndrome 31 test
  • Muscle AMP deaminase deficiency1 test
  • Muscle eye brain disease1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 15 tests
  • Myasthenia, limb-girdle, familial1 test
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency1 test
  • Myasthenic syndrome, congenital, 4b, fast-channel1 test
  • Myasthenic syndrome, congenital, 81 test
  • Myelofibrosis1 test
  • Myoclonic dystonia 112 tests
  • Myofibrillar myopathy 11 test
  • Myofibrillar myopathy 31 test
  • Myofibrillar myopathy, filamin C-related1 test
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Myopathy with lactic acidosis, hereditary1 test
  • Myopathy with postural muscle atrophy, X-linked1 test
  • Myopathy, centronuclear, 12 tests
  • Myopathy, centronuclear, 21 test
  • Myotonic dystrophy type 21 test
  • Nail-patella syndrome1 test
  • NARP syndrome1 test
  • Navajo neurohepatopathy1 test
  • Nemaline myopathy 11 test
  • Nemaline myopathy 21 test
  • Nemaline myopathy 32 tests
  • Nemaline myopathy 41 test
  • Nemaline myopathy 51 test
  • Nemaline myopathy 61 test
  • Nemaline myopathy 71 test
  • Neoplasm of ovary1 test
  • Nephrogenic diabetes insipidus, autosomal1 test
  • Nephrogenic diabetes insipidus, X-linked1 test
  • Nephronophthisis 41 test
  • Nephronophthisis 71 test
  • Nephronophthisis 91 test
  • Nephropathic cystinosis2 tests
  • Nephrotic syndrome, type 31 test
  • Neural tube defect1 test
  • Neuroblastoma 31 test
  • Neurofibromatosis, type 11 test
  • Neurofibromatosis, type 21 test
  • Neuronal ceroid lipofuscinosis 11 test
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 31 test
  • Neuronal ceroid lipofuscinosis 51 test
  • Neuronal ceroid lipofuscinosis 62 tests
  • Neuronal ceroid lipofuscinosis 72 tests
  • Neuronal ceroid lipofuscinosis 81 test
  • Neutropenia, severe congenital 1, autosomal dominant2 tests
  • Nicolaides-Baraitser syndrome1 test
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B1 test
  • Niemann-Pick disease, type C1 test
  • Niemann-Pick disease, type C21 test
  • Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
  • Non-ketotic hyperglycinemia3 tests
  • Non-syndromic intellectual disability1 test
  • Non-syndromic X-linked intellectual disability1 test
  • Nonpersistence of intestinal lactase1 test
  • 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-like disorder with loose anagen hair 11 test
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
  • Norman-Roberts syndrome1 test
  • Nystagmus 6, congenital, X-linked1 test
  • Obesity5 tests
  • Ocular albinism, type I1 test
  • Oculocutaneous albinism type 11 test
  • Oculocutaneous albinism type 1B1 test
  • Oculopharyngeal muscular dystrophy1 test
  • Oguchi disease1 test
  • Oguchi disease 21 test
  • Opitz GBBB syndrome, type I1 test
  • Optic atrophy 31 test
  • Optic atrophy 71 test
  • Ornithine carbamoyltransferase deficiency1 test
  • Orofacial cleft 111 test
  • Orotic aciduria1 test
  • Osteodysplastic primordial dwarfism, type 11 test
  • Osteogenesis imperfecta2 tests
  • Osteogenesis imperfecta type 71 test
  • Osteogenesis imperfecta type 81 test
  • Osteogenesis imperfecta type 91 test
  • Osteogenesis imperfecta type I1 test
  • Osteogenesis imperfecta type III2 tests
  • Osteopathia striata with cranial sclerosis2 tests
  • Osteopetrosis with renal tubular acidosis1 test
  • Osteopetrosis, autosomal recessive 51 test
  • Oto-palato-digital syndrome, type II1 test
  • Otofaciocervical syndrome 11 test
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
  • Ovarian dysgenesis 11 test
  • Ovarian dysgenesis 21 test
  • Pachyonychia congenita 11 test
  • Pachyonychia congenita 21 test
  • Pachyonychia congenita 31 test
  • Pachyonychia congenita 41 test
  • Pallister-Hall syndrome1 test
  • Palmoplantar keratoderma i, striate, focal, or diffuse1 test
  • Palmoplantar keratoderma, nonepidermolytic, focal 11 test
  • Pancreatic lipase deficiency1 test
  • Papillon-Lefèvre syndrome1 test
  • Paragangliomas 11 test
  • Paragangliomas 31 test
  • Paragangliomas 41 test
  • Paramyotonia congenita of von Eulenburg1 test
  • Parkes Weber syndrome1 test
  • Parkinson disease 11 test
  • Parkinson disease 141 test
  • Parkinson disease 21 test
  • Parkinson disease 41 test
  • Parkinson disease 6, autosomal recessive early-onset1 test
  • Parkinson disease 71 test
  • Parkinson disease 8, autosomal dominant1 test
  • Paroxysmal nocturnal hemoglobinuria1 test
  • Paroxysmal nonkinesigenic dyskinesia 11 test
  • Partington syndrome1 test
  • Pelizaeus-Merzbacher disease1 test
  • Pendred syndrome1 test
  • Periventricular nodular heterotopia 11 test
  • Permanent neonatal diabetes mellitus2 tests
  • Peroxisomal acyl-CoA oxidase deficiency1 test
  • Peroxisome biogenesis disorder 10A3 tests
  • Peroxisome biogenesis disorder 11A3 tests
  • Peroxisome biogenesis disorder 11B1 test
  • Peroxisome biogenesis disorder 12A3 tests
  • Peroxisome biogenesis disorder 13A3 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)1 test
  • Peroxisome biogenesis disorder 2A (Zellweger)3 tests
  • Peroxisome biogenesis disorder 2B1 test
  • Peroxisome biogenesis disorder 3A3 tests
  • Peroxisome biogenesis disorder 4a (zellweger)1 test
  • Peroxisome biogenesis disorder 4B1 test
  • Peroxisome biogenesis disorder 5a (zellweger)3 tests
  • Peroxisome biogenesis disorder 5B1 test
  • Peroxisome biogenesis disorder 6A3 tests
  • Peroxisome biogenesis disorder 6B1 test
  • Peroxisome biogenesis disorder 7A3 tests
  • Peroxisome biogenesis disorder 7B1 test
  • Peroxisome biogenesis disorder 8A3 tests
  • Peroxisome biogenesis disorder 8B1 test
  • Peroxisome biogenesis disorder type 3B1 test
  • Peroxisome biogenesis disorders, Zellweger syndrome spectrum2 tests
  • Persistent Mullerian duct syndrome2 tests
  • Peters plus syndrome1 test
  • Peutz-Jeghers syndrome1 test
  • Phenylketonuria1 test
  • Phosphoenolpyruvate carboxykinase (GTP) deficiency1 test
  • Pierson syndrome1 test
  • Pigmentary pallidal degeneration1 test
  • Pigmented nodular adrenocortical disease, primary, 21 test
  • Pigmented nodular adrenocortical disease, primary, 31 test
  • Pitt-Hopkins syndrome1 test
  • Pituitary hormone deficiency, combined 21 test
  • Pituitary hormone deficiency, combined, 11 test
  • Polycystic kidney disease 21 test
  • Polycystic kidney disease, adult type1 test
  • Polycystic liver disease 12 tests
  • Polyglandular autoimmune syndrome, type 11 test
  • Polymicrogyria, bilateral frontoparietal1 test
  • Polymorphous corneal dystrophy1 test
  • Pontocerebellar hypoplasia type 21 test
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 41 test
  • Prader-Willi syndrome2 tests
  • Premature ovarian failure 11 test
  • Primary autosomal recessive microcephaly 11 test
  • Primary autosomal recessive microcephaly 51 test
  • Primary ciliary dyskinesia2 tests
  • Primary dilated cardiomyopathy2 tests
  • Primary erythromelalgia1 test
  • Primary hyperoxaluria, type I1 test
  • Primary hyperoxaluria, type II1 test
  • Primary hyperoxaluria, type III1 test
  • Primary hypomagnesemia1 test
  • Primary open angle glaucoma2 tests
  • Primary pulmonary hypertension 11 test
  • Progressive familial intrahepatic cholestasis 31 test
  • Progressive myositis ossificans1 test
  • Progressive pseudorheumatoid dysplasia1 test
  • Proline dehydrogenase deficiency1 test
  • Propionic acidemia2 tests
  • Protoporphyria, erythropoietic, 11 test
  • Pseudo-Hurler polydystrophy1 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
  • Pseudohypoparathyroidism1 test
  • Pseudohypoparathyroidism type 1B1 test
  • Pseudohypoparathyroidism type 1C1 test
  • Pseudopseudohypoparathyroidism1 test
  • Pseudoxanthoma elasticum1 test
  • Pulmonary alveolar proteinosis1 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 11 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 21 test
  • Pulmonary venoocclusive disease 1, autosomal dominant1 test
  • Purine-nucleoside phosphorylase deficiency1 test
  • Pyknodysostosis1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
  • Pyridoxine-dependent epilepsy1 test
  • Pyruvate carboxylase deficiency1 test
  • Reis-Bucklers' corneal dystrophy1 test
  • Renal cell carcinoma, papillary, 11 test
  • Renal coloboma syndrome1 test
  • Renal cysts and diabetes syndrome1 test
  • Renal tubular acidosis, distal, autosomal recessive1 test
  • Renal-hepatic-pancreatic dysplasia 11 test
  • Reticular dysgenesis1 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
  • Retinitis pigmentosa 21 test
  • Retinitis pigmentosa 201 test
  • Retinitis pigmentosa 371 test
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
  • Retinoblastoma1 test
  • Rett syndrome2 tests
  • Rett syndrome, congenital variant1 test
  • Rhizomelic chondrodysplasia punctata1 test
  • Rieger syndrome4 tests
  • Rippling muscle disease 21 test
  • Roberts-SC phocomelia syndrome1 test
  • Robinow syndrome, autosomal dominant 11 test
  • Robinow syndrome, autosomal recessive1 test
  • Rothmund-Thomson syndrome1 test
  • Rotor syndrome2 tests
  • Rubinstein-Taybi syndrome 11 test
  • Russell-Silver syndrome1 test
  • Saethre-Chotzen syndrome1 test
  • Sandhoff disease1 test
  • Schinzel-Giedion syndrome1 test
  • Schizophrenia2 tests
  • Schwannomatosis 11 test
  • Schwartz-Jampel syndrome1 test
  • Sclerosteosis 11 test
  • Seckel syndrome 11 test
  • Seizures, benign familial infantile, 21 test
  • Septo-optic dysplasia sequence1 test
  • Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative2 tests
  • Severe congenital neutropenia 2, autosomal dominant1 test
  • Severe myoclonic epilepsy in infancy4 tests
  • Severe X-linked myotubular myopathy1 test
  • Short QT syndrome 31 test
  • Short stature, idiopathic, autosomal2 tests
  • Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
  • Shwachman-Diamond syndrome 11 test
  • Sialidosis type 21 test
  • Simpson-Golabi-Behmel syndrome type 11 test
  • Sitosterolemia2 tests
  • Sjögren-Larsson syndrome1 test
  • Smith-Lemli-Opitz syndrome1 test
  • Smith-Magenis syndrome1 test
  • Sorsby fundus dystrophy1 test
  • Sotos syndrome 11 test
  • Sotos syndrome 21 test
  • Spastic paraplegia 11, autosomal recessive1 test
  • Spastic paraplegia 30, autosomal recessive1 test
  • Spastic paraplegia 351 test
  • Spastic paraplegia 4, autosomal dominant1 test
  • Spastic paraplegia 51, autosomal recessive1 test
  • Spherocytosis type 11 test
  • Spherocytosis type 21 test
  • Spherocytosis type 31 test
  • Spherocytosis type 41 test
  • Spherocytosis type 51 test
  • Spheroid body myopathy1 test
  • Spinal muscular atrophy, distal, autosomal recessive, 11 test
  • Spinocerebellar ataxia 361 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 12 tests
  • Spinocerebellar ataxia type 101 test
  • Spinocerebellar ataxia type 111 test
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 141 test
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 181 test
  • Spinocerebellar ataxia type 19/221 test
  • Spinocerebellar ataxia type 21 test
  • Spinocerebellar ataxia type 51 test
  • Spinocerebellar ataxia type 61 test
  • Spinocerebellar ataxia type 81 test
  • Spinocerebellar ataxia, autosomal recessive 81 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
  • Spondylocostal dysostosis 1, autosomal recessive2 tests
  • Spondylocostal dysostosis 2, autosomal recessive2 tests
  • Spondylocostal dysostosis 3, autosomal recessive2 tests
  • Spondylocostal dysostosis 4, autosomal recessive2 tests
  • Spondyloenchondrodysplasia with immune dysregulation1 test
  • Spondyloepiphyseal dysplasia congenita2 tests
  • Spondyloepiphyseal dysplasia tarda2 tests
  • Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
  • Spongy degeneration of central nervous system1 test
  • Stargardt disease 11 test
  • Stargardt Disease 31 test
  • Steatocystoma multiplex1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Stickler syndrome type 11 test
  • Stickler syndrome type 21 test
  • Succinate-semialdehyde dehydrogenase deficiency1 test
  • Succinyl-CoA acetoacetate transferase deficiency1 test
  • Supravalvar aortic stenosis1 test
  • Surfactant metabolism dysfunction, pulmonary, 11 test
  • Surfactant metabolism dysfunction, pulmonary, 22 tests
  • Surfactant metabolism dysfunction, pulmonary, 31 test
  • Syndromic X-linked intellectual disability Snyder type1 test
  • Systemic lupus erythematosus1 test
  • Tangier disease1 test
  • Tay-Sachs disease1 test
  • Tay-Sachs disease, variant AB1 test
  • Telangiectasia, hereditary hemorrhagic, type 22 tests
  • Thanatophoric dysplasia, type 21 test
  • Thiopurine methyltransferase deficiency1 test
  • Three M syndrome 22 tests
  • Thrombocythemia 31 test
  • Thrombocytopenia 11 test
  • Thrombophilia due to factor V Leiden1 test
  • Thrombophilia due to thrombin defect2 tests
  • Thrombophilia due to thrombomodulin defect1 test
  • Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant1 test
  • Thyroid hormone resistance, generalized, autosomal dominant1 test
  • Tietz syndrome1 test
  • Timothy syndrome2 tests
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Torsion dystonia 61 test
  • Tourette syndrome1 test
  • Townes-Brocks syndrome 11 test
  • Transcolabamin II deficiency1 test
  • Transient neonatal diabetes mellitus 11 test
  • Transient neonatal diabetes mellitus 21 test
  • Transient neonatal diabetes mellitus 31 test
  • Treacher Collins syndrome 11 test
  • Treacher Collins syndrome 21 test
  • Treacher Collins syndrome 31 test
  • Trichohepatoenteric syndrome 11 test
  • Trichohepatoenteric syndrome 21 test
  • Trichorhinophalangeal dysplasia type I1 test
  • Trichothiodystrophy 1, photosensitive1 test
  • Trimethylaminuria1 test
  • Tuberous sclerosis 13 tests
  • Tuberous sclerosis 22 tests
  • Turcot syndrome2 tests
  • Tyrosinase-positive oculocutaneous albinism3 tests
  • Tyrosinemia type I1 test
  • UDPglucose-4-epimerase deficiency1 test
  • Ullrich congenital muscular dystrophy 13 tests
  • Ulnar-mammary syndrome1 test
  • Unverricht-Lundborg syndrome1 test
  • Upshaw-Schulman syndrome1 test
  • Usher syndrome type 11 test
  • Usher syndrome type 1D1 test
  • Usher syndrome, type 2A1 test
  • Usher syndrome, type 3B1 test
  • Usher Syndrome, Type III1 test
  • van der Woude syndrome 11 test
  • Variegate porphyria1 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 21 test
  • Very long chain acyl-CoA dehydrogenase deficiency3 tests
  • Visceral heterotaxy 5, autosomal1 test
  • Vitamin B12-responsive methylmalonic acidemia type cblA2 tests
  • Vitamin B12-responsive methylmalonic acidemia type cblB2 tests
  • Vitamin D-dependent rickets, type 11 test
  • Vitelliform macular dystrophy type 22 tests
  • Vitiligo-associated multiple autoimmune disease susceptibility 11 test
  • Vohwinkel syndrome, variant form1 test
  • Von Hippel-Lindau syndrome1 test
  • von Willebrand disease type 11 test
  • von Willebrand disease type 21 test
  • Von Willebrand disease, recessive form1 test
  • Waardenburg syndrome type 11 test
  • Waardenburg syndrome type 2A1 test
  • Waardenburg syndrome type 4C1 test
  • Weaver syndrome1 test
  • Weill-Marchesani syndrome 11 test
  • Werdnig-Hoffmann disease1 test
  • Werner syndrome1 test
  • Williams syndrome1 test
  • Wilms tumor 11 test
  • Wilson disease1 test
  • Wolcott-Rallison dysplasia1 test
  • Wolff-Parkinson-White pattern1 test
  • Wolfram syndrome 21 test
  • Wolfram-like syndrome, autosomal dominant1 test
  • X-linked agammaglobulinemia1 test
  • X-linked hydrocephalus syndrome1 test
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked severe combined immunodeficiency1 test
  • X-linked severe congenital neutropenia1 test
  • Xeroderma pigmentosum group A1 test
  • Xeroderma pigmentosum, group C1 test
  • Zinc deficiency, transient neonatal1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Custom microarray analysis
  • Mutation Confirmation
  • Preimplantation Genetic Diagnosis (PGD)
  • Result interpretation
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing

Participation in external programs

Standardization programs

  • ISCA Consortium (International Standards for Cytogenomic Arrays)

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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