GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

Personnel

Director: Juan Lopez, PhD, Scientific Director
Phone: +34 952657605
Fax: +34 952254896
Email: laboratorio@genetaq.com
Carmen Torres, PhD, Geneticist
Phone: +34 952657605
Fax: +34 952254896
Email: laboratorio@genetaq.com

Conditions and tests

2003 conditions/phenotypes with 1264 tests
Enter text to narrow down the list

3 beta-Hydroxysteroid dehydrogenase deficiency1 test
3-methylcrotonyl-CoA carboxylase 1 deficiency3 tests
3-methylcrotonyl-CoA carboxylase 2 deficiency3 tests
3-methylglutaconic aciduria type 12 tests
3-Methylglutaconic aciduria type 23 tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
3M syndrome 11 test
46,XX sex reversal 12 tests
46,XY sex reversal 12 tests
4p partial monosomy syndrome1 test
Aarskog syndrome2 tests
Abetalipoproteinaemia2 tests
Absence seizure2 tests
Achondrogenesis type II1 test
Achondrogenesis, type IA1 test
Achondrogenesis, type IB3 tests
Achondroplasia2 tests
Achromatopsia 21 test
Achromatopsia 31 test
Achromatopsia 41 test
Acquired hemoglobin H disease1 test
Acquired polycythemia vera3 tests
Acrocallosal syndrome1 test
Acrocephalosyndactyly type I2 tests
Acroerythrokeratoderma1 test
Acromesomelic dysplasia 31 test
Acromicric dysplasia1 test
Acroosteolysis-keloid-like lesions-premature aging syndrome1 test
Actin accumulation myopathy3 tests
Action myoclonus-renal failure syndrome1 test
Acute intermittent porphyria1 test
Acute myeloid leukemia4 tests
Acyl-CoA oxidase deficiency1 test
Adams-Oliver syndrome 12 tests
Adrenocortical carcinoma, hereditary1 test
Adrenoleukodystrophy4 tests
Adult hypophosphatasia2 tests
Adult neuronal ceroid lipofuscinosis1 test
Adult polyglucosan body disease1 test
Adult-onset autosomal dominant demyelinating leukodystrophy2 tests
Adult-onset foveomacular vitelliform dystrophy2 tests
Aicardi-Goutieres syndrome 13 tests
Aicardi-Goutieres syndrome 23 tests
Aicardi-Goutieres syndrome 33 tests
Aicardi-Goutieres syndrome 43 tests
Aicardi-Goutieres syndrome 51 test
Aicardi-Goutieres syndrome 61 test
Alagille syndrome due to a JAG1 point mutation3 tests
Alagille syndrome due to a NOTCH2 point mutation1 test
Alexander disease2 tests
ALG1-congenital disorder of glycosylation1 test
ALG11-congenital disorder of glycosylation1 test
ALG12-congenital disorder of glycosylation2 tests
ALG2-congenital disorder of glycosylation2 tests
ALG3-congenital disorder of glycosylation2 tests
ALG6-congenital disorder of glycosylation 1C2 tests
ALG8 congenital disorder of glycosylation1 test
ALG9 congenital disorder of glycosylation2 tests
Allan-Herndon-Dudley syndrome4 tests
alpha Thalassemia3 tests
Alpha thalassemia-X-linked intellectual disability syndrome2 tests
Alpha-1-antitrypsin deficiency1 test
Alstrom syndrome1 test
Alternating hemiplegia of childhood 11 test
Alternating hemiplegia of childhood 21 test
Alzheimer disease4 tests
Alzheimer disease 24 tests
Alzheimer disease 35 tests
Alzheimer disease 46 tests
Amyloidogenic transthyretin amyloidosis3 tests
Amyotrophic lateral sclerosis type 13 tests
Amyotrophic lateral sclerosis type 104 tests
Amyotrophic lateral sclerosis type 111 test
Amyotrophic lateral sclerosis type 121 test
Amyotrophic lateral sclerosis type 161 test
Amyotrophic lateral sclerosis type 2, juvenile1 test
Amyotrophic lateral sclerosis type 41 test
Amyotrophic lateral sclerosis type 51 test
Amyotrophic lateral sclerosis type 62 tests
Amyotrophic lateral sclerosis type 82 tests
Amyotrophic lateral sclerosis type 92 tests
Amyotrophic neuralgia2 tests
Anauxetic dysplasia 11 test
Andersen Tawil syndrome3 tests
Androgen resistance syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2 tests
Aneurysm-osteoarthritis syndrome2 tests
Angelman syndrome5 tests
Angiokeratoma corporis diffusum3 tests
Angioosteohypertrophic syndrome1 test
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome1 test
Aniridia 14 tests
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome4 tests
Anterior segment dysgenesis 11 test
Anterior segment dysgenesis 31 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
Anxiety1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 63 tests
Aortic aneurysm, familial thoracic 71 test
Apparent mineralocorticoid excess1 test
Arginase deficiency2 tests
Argininosuccinate lyase deficiency2 tests
Aromatase deficiency1 test
Arrhythmogenic right ventricular dysplasia 11 test
Arrhythmogenic right ventricular dysplasia 101 test
Arrhythmogenic right ventricular dysplasia 111 test
Arrhythmogenic right ventricular dysplasia 121 test
Arrhythmogenic right ventricular dysplasia 23 tests
Arrhythmogenic right ventricular dysplasia 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Arterial tortuosity syndrome1 test
Arthrogryposis, distal, type 1A5 tests
Arthrogryposis, distal, type 1B1 test
Asperger syndrome, X-linked, susceptibility to, 22 tests
Asphyxiating thoracic dystrophy 21 test
Asphyxiating thoracic dystrophy 31 test
Asphyxiating thoracic dystrophy 41 test
Ataxia - oculomotor apraxia type 41 test
Ataxia with oculomotor apraxia type 31 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia3 tests
Ataxia-telangiectasia syndrome4 tests
Ataxia-telangiectasia-like disorder 12 tests
Ateleiotic dwarfism2 tests
Atelosteogenesis type I2 tests
Atelosteogenesis type II2 tests
Atelosteogenesis type III2 tests
Atrial fibrillation, familial, 71 test
Atrial fibrillation, familial, 91 test
Atrial septal defect 31 test
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with C3 anomaly1 test
Atypical hemolytic-uremic syndrome with I factor anomaly1 test
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly3 tests
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
Autism, susceptibility to, 161 test
Autism, susceptibility to, X-linked 11 test
Autism, susceptibility to, X-linked 22 tests
Autism, susceptibility to, X-linked 31 test
Autism, susceptibility to, X-linked 41 test
Autism, susceptibility to, X-linked 51 test
Autoimmune thyroid disease, susceptibility to, 31 test
Autosomal dominant Alport syndrome2 tests
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
Autosomal dominant distal renal tubular acidosis2 tests
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome3 tests
Autosomal dominant hypocalcemia 13 tests
Autosomal dominant hypocalcemia 22 tests
Autosomal dominant hypophosphatemic rickets3 tests
Autosomal dominant isolated somatotropin deficiency2 tests
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)3 tests
Autosomal dominant nocturnal frontal lobe epilepsy 12 tests
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 42 tests
Autosomal dominant nonsyndromic hearing loss 12 tests
Autosomal dominant nonsyndromic hearing loss 102 tests
Autosomal dominant nonsyndromic hearing loss 113 tests
Autosomal dominant nonsyndromic hearing loss 123 tests
Autosomal dominant nonsyndromic hearing loss 133 tests
Autosomal dominant nonsyndromic hearing loss 152 tests
Autosomal dominant nonsyndromic hearing loss 172 tests
Autosomal dominant nonsyndromic hearing loss 202 tests
Autosomal dominant nonsyndromic hearing loss 224 tests
Autosomal dominant nonsyndromic hearing loss 252 tests
Autosomal dominant nonsyndromic hearing loss 282 tests
Autosomal dominant nonsyndromic hearing loss 2A2 tests
Autosomal dominant nonsyndromic hearing loss 2B3 tests
Autosomal dominant nonsyndromic hearing loss 364 tests
Autosomal dominant nonsyndromic hearing loss 3A6 tests
Autosomal dominant nonsyndromic hearing loss 3B6 tests
Autosomal dominant nonsyndromic hearing loss 402 tests
Autosomal dominant nonsyndromic hearing loss 442 tests
Autosomal dominant nonsyndromic hearing loss 4A2 tests
Autosomal dominant nonsyndromic hearing loss 4B2 tests
Autosomal dominant nonsyndromic hearing loss 52 tests
Autosomal dominant nonsyndromic hearing loss 502 tests
Autosomal dominant nonsyndromic hearing loss 62 tests
Autosomal dominant nonsyndromic hearing loss 92 tests
Autosomal dominant optic atrophy classic form3 tests
Autosomal dominant osteopetrosis 12 tests
Autosomal dominant osteopetrosis 22 tests
Autosomal dominant Parkinson disease 14 tests
Autosomal dominant Parkinson disease 41 test
Autosomal dominant Parkinson disease 84 tests
Autosomal dominant pseudohypoaldosteronism type 12 tests
Autosomal dominant Robinow syndrome 11 test
Autosomal dominant vitreoretinochoroidopathy1 test
Autosomal recessive Alport syndrome3 tests
Autosomal recessive ataxia due to ubiquinone deficiency3 tests
Autosomal recessive ataxia, Beauce type2 tests
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 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 distal spinal muscular atrophy 11 test
Autosomal recessive distal spinal muscular atrophy 21 test
Autosomal recessive DOPA responsive dystonia2 tests
Autosomal recessive early-onset Parkinson disease 63 tests
Autosomal recessive early-onset Parkinson disease 72 tests
Autosomal recessive hypophosphatemic bone disease1 test
Autosomal recessive juvenile Parkinson disease 24 tests
Autosomal recessive limb-girdle muscular dystrophy type 2A3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2B4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2C2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2D3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2E3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2F2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2G3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2J4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2K7 tests
Autosomal recessive limb-girdle muscular dystrophy type 2L2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2M4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2N6 tests
Autosomal recessive limb-girdle muscular dystrophy type 2O4 tests
Autosomal recessive limb-girdle muscular dystrophy type 2P3 tests
Autosomal recessive limb-girdle muscular dystrophy type 2Q2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2U4 tests
Autosomal recessive multiple pterygium syndrome1 test
Autosomal recessive nonsyndromic hearing loss 122 tests
Autosomal recessive nonsyndromic hearing loss 152 tests
Autosomal recessive nonsyndromic hearing loss 18A3 tests
Autosomal recessive nonsyndromic hearing loss 1A8 tests
Autosomal recessive nonsyndromic hearing loss 1B6 tests
Autosomal recessive nonsyndromic hearing loss 22 tests
Autosomal recessive nonsyndromic hearing loss 211 test
Autosomal recessive nonsyndromic hearing loss 233 tests
Autosomal recessive nonsyndromic hearing loss 242 tests
Autosomal recessive nonsyndromic hearing loss 252 tests
Autosomal recessive nonsyndromic hearing loss 282 tests
Autosomal recessive nonsyndromic hearing loss 292 tests
Autosomal recessive nonsyndromic hearing loss 32 tests
Autosomal recessive nonsyndromic hearing loss 302 tests
Autosomal recessive nonsyndromic hearing loss 313 tests
Autosomal recessive nonsyndromic hearing loss 352 tests
Autosomal recessive nonsyndromic hearing loss 373 tests
Autosomal recessive nonsyndromic hearing loss 392 tests
Autosomal recessive nonsyndromic hearing loss 45 tests
Autosomal recessive nonsyndromic hearing loss 422 tests
Autosomal recessive nonsyndromic hearing loss 482 tests
Autosomal recessive nonsyndromic hearing loss 492 tests
Autosomal recessive nonsyndromic hearing loss 532 tests
Autosomal recessive nonsyndromic hearing loss 593 tests
Autosomal recessive nonsyndromic hearing loss 63 tests
Autosomal recessive nonsyndromic hearing loss 611 test
Autosomal recessive nonsyndromic hearing loss 632 tests
Autosomal recessive nonsyndromic hearing loss 672 tests
Autosomal recessive nonsyndromic hearing loss 72 tests
Autosomal recessive nonsyndromic hearing loss 742 tests
Autosomal recessive nonsyndromic hearing loss 772 tests
Autosomal recessive nonsyndromic hearing loss 792 tests
Autosomal recessive nonsyndromic hearing loss 83 tests
Autosomal recessive nonsyndromic hearing loss 84A2 tests
Autosomal recessive nonsyndromic hearing loss 95 tests
Autosomal recessive nonsyndromic hearing loss 912 tests
Autosomal recessive optic atrophy, OPA7 type1 test
Autosomal recessive osteopetrosis 12 tests
Autosomal recessive osteopetrosis 21 test
Autosomal recessive osteopetrosis 42 tests
Autosomal recessive osteopetrosis 51 test
Autosomal recessive osteopetrosis 61 test
Autosomal recessive osteopetrosis 71 test
Autosomal recessive osteopetrosis 81 test
Autosomal recessive Parkinson disease 142 tests
Autosomal recessive polycystic kidney disease5 tests
Autosomal recessive proximal renal tubular acidosis2 tests
Autosomal recessive pseudohypoaldosteronism type 13 tests
Autosomal recessive Robinow syndrome1 test
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
Autosomal recessive spastic paraplegia type 761 test
Autosomal recessive spinocerebellar ataxia 101 test
Autosomal recessive spinocerebellar ataxia 111 test
Autosomal recessive spinocerebellar ataxia 142 tests
Autosomal systemic lupus erythematosus type 161 test
Axenfeld-Rieger syndrome type 11 test
Axenfeld-Rieger syndrome type 31 test
Azorean disease4 tests
B4GALT1-congenital disorder of glycosylation1 test
Baller-Gerold syndrome1 test
Bamforth-Lazarus syndrome1 test
Bannayan-Riley-Ruvalcaba syndrome1 test
Bardet-Biedl syndrome4 tests
Bardet-Biedl syndrome 101 test
Bardet-Biedl syndrome 112 tests
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 141 test
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 162 tests
Bardet-Biedl syndrome 171 test
Bardet-Biedl syndrome 181 test
Bardet-Biedl syndrome 21 test
Bardet-Biedl syndrome 31 test
Bardet-Biedl syndrome 41 test
Bardet-Biedl syndrome 51 test
Bardet-Biedl syndrome 61 test
Bardet-Biedl syndrome 71 test
Bardet-Biedl syndrome 81 test
Bardet-Biedl syndrome 91 test
Bartsocas-Papas syndrome 11 test
Bartter disease type 12 tests
Bartter disease type 23 tests
Bartter disease type 32 tests
Bartter disease type 4A4 tests
Bartter disease type 4B1 test
Basal cell carcinoma, susceptibility to, 11 test
Basal ganglia calcification, idiopathic, 41 test
Basal ganglia calcification, idiopathic, 51 test
Beare-Stevenson cutis gyrata syndrome2 tests
Becker muscular dystrophy2 tests
Beckwith-Wiedemann syndrome3 tests
Benign familial hematuria1 test
Benign hereditary chorea1 test
Benign recurrent intrahepatic cholestasis type 11 test
Benign recurrent intrahepatic cholestasis type 21 test
Benign scapuloperoneal muscular dystrophy with cardiomyopathy6 tests
beta Thalassemia2 tests
Bifunctional peroxisomal enzyme deficiency1 test
Bilateral frontoparietal polymicrogyria1 test
Biotin-responsive basal ganglia disease1 test
Biotinidase deficiency2 tests
Blau syndrome3 tests
Blepharophimosis, ptosis, and epicanthus inversus syndrome2 tests
Bloom syndrome1 test
Bone mineral density quantitative trait locus 11 test
Bone osteosarcoma1 test
Boomerang dysplasia1 test
Brachydactyly type B21 test
Brachyrachia (short spine dysplasia)1 test
Bradyopsia1 test
Brain small vessel disease 1 with or without ocular anomalies2 tests
Brain-lung-thyroid syndrome1 test
Branchiootorenal syndrome 12 tests
Breast-ovarian cancer, familial, susceptibility to, 19 tests
Breast-ovarian cancer, familial, susceptibility to, 29 tests
Breast-ovarian cancer, familial, susceptibility to, 32 tests
Breast-ovarian cancer, familial, susceptibility to, 42 tests
Brody myopathy1 test
Bronchiectasis with or without elevated sweat chloride 12 tests
Bronchiectasis with or without elevated sweat chloride 21 test
Bronchiectasis with or without elevated sweat chloride 31 test
Brooke-Spiegler syndrome1 test
Bruck syndrome 21 test
Brugada syndrome 12 tests
Brugada syndrome 22 tests
Brugada syndrome 33 tests
Brugada syndrome 42 tests
Brugada syndrome 52 tests
Brugada syndrome 62 tests
Brugada syndrome 71 test
Brugada syndrome 82 tests
Brugada syndrome 92 tests
C syndrome1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Camptomelic dysplasia2 tests
Capillary malformation-arteriovenous malformation 11 test
CARASIL syndrome1 test
Carcinoid tumor of intestine1 test
Carcinoma of colon3 tests
Carcinoma of pancreas3 tests
Cardiac arrhythmia, ankyrin-B-related2 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 13 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22 tests
Cardiofaciocutaneous syndrome 15 tests
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 33 tests
Cardiofaciocutaneous syndrome 41 test
Carney complex, type 11 test
Carney-Stratakis syndrome1 test
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency2 tests
Carnitine palmitoyl transferase II deficiency, myopathic form3 tests
Carnitine palmitoyl transferase II deficiency, neonatal form2 tests
Carnitine palmitoyl transferase II deficiency, severe infantile form2 tests
Catecholaminergic polymorphic ventricular tachycardia 16 tests
Catecholaminergic polymorphic ventricular tachycardia 23 tests
Catecholaminergic polymorphic ventricular tachycardia 42 tests
Catecholaminergic polymorphic ventricular tachycardia 53 tests
CBL-related disorder1 test
Central core myopathy3 tests
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 16 tests
Cerebral cavernous malformation4 tests
Cerebral cavernous malformation 22 tests
Cerebral cavernous malformation 32 tests
Cerebrooculofacioskeletal syndrome 21 test
Cerebrooculofacioskeletal syndrome 31 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
Ceroid lipofuscinosis, neuronal, 6A2 tests
CFHR5 deficiency1 test
Charcot-Marie-Tooth disease axonal type 2C2 tests
Charcot-Marie-Tooth disease axonal type 2F2 tests
Charcot-Marie-Tooth disease axonal type 2H2 tests
Charcot-Marie-Tooth disease axonal type 2K2 tests
Charcot-Marie-Tooth disease axonal type 2L1 test
Charcot-Marie-Tooth disease axonal type 2N1 test
Charcot-Marie-Tooth disease axonal type 2O1 test
Charcot-Marie-Tooth disease axonal type 2P1 test
Charcot-Marie-Tooth disease dominant intermediate B1 test
Charcot-Marie-Tooth disease dominant intermediate C1 test
Charcot-Marie-Tooth disease dominant intermediate D2 tests
Charcot-Marie-Tooth disease dominant intermediate E1 test
Charcot-Marie-Tooth disease recessive intermediate A1 test
Charcot-Marie-Tooth disease type 1B3 tests
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1D3 tests
Charcot-Marie-Tooth disease type 1E2 tests
Charcot-Marie-Tooth disease type 1F2 tests
Charcot-Marie-Tooth disease type 2A11 test
Charcot-Marie-Tooth disease type 2A23 tests
Charcot-Marie-Tooth disease type 2B1 test
Charcot-Marie-Tooth disease type 2B12 tests
Charcot-Marie-Tooth disease type 2B21 test
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 4A1 test
Charcot-Marie-Tooth disease type 4B12 tests
Charcot-Marie-Tooth disease type 4B23 tests
Charcot-Marie-Tooth disease type 4C3 tests
Charcot-Marie-Tooth disease type 4D2 tests
Charcot-Marie-Tooth disease type 4E1 test
Charcot-Marie-Tooth disease type 4F2 tests
Charcot-Marie-Tooth disease type 4G1 test
Charcot-Marie-Tooth disease type 4H1 test
Charcot-Marie-Tooth disease type 4J1 test
Charcot-Marie-Tooth disease type 4K1 test
Charcot-Marie-Tooth disease X-linked dominant 12 tests
Charcot-Marie-Tooth disease X-linked recessive 51 test
Charcot-Marie-Tooth disease, type IA3 tests
CHARGE association2 tests
Charlevoix-Saguenay spastic ataxia3 tests
Child syndrome1 test
Childhood apraxia of speech2 tests
Childhood hypophosphatasia1 test
Childhood onset GLUT1 deficiency syndrome 21 test
Cholestanol storage disease2 tests
Cholestasis, intrahepatic, of pregnancy, 12 tests
Cholestasis, progressive familial intrahepatic, 41 test
Chondrodysplasia Blomstrand type1 test
Chondrodysplasia punctata 2 X-linked dominant1 test
Chondrosarcoma1 test
Choroidal dystrophy, central areolar 21 test
Choroideremia1 test
Chromosome 1p36 deletion syndrome1 test
Chromosome 2p16.3 deletion syndrome1 test
Chronic infantile neurological, cutaneous and articular syndrome2 tests
Chudley-McCullough syndrome2 tests
Chédiak-Higashi syndrome1 test
CIDEC-related familial partial lipodystrophy1 test
Citrullinemia type I4 tests
Citrullinemia type II3 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency3 tests
Classic homocystinuria2 tests
Cleidocranial dysostosis1 test
COACH syndrome 11 test
Cobalamin C disease2 tests
Cobblestone lissencephaly without muscular or ocular involvement1 test
Cockayne syndrome type 21 test
Coenzyme Q10 deficiency, primary, 11 test
Coffin-Lowry syndrome2 tests
Coffin-Siris syndrome 11 test
Coffin-Siris syndrome 51 test
COG1 congenital disorder of glycosylation1 test
COG4-congenital disorder of glycosylation1 test
COG5-congenital disorder of glycosylation1 test
COG6-ongenital disorder of glycosylation1 test
COG7 congenital disorder of glycosylation1 test
COG8-congenital disorder of glycosylation1 test
Cohen syndrome2 tests
Cold-induced sweating syndrome 11 test
Cold-induced sweating syndrome 21 test
Colorectal cancer, hereditary nonpolyposis, type 26 tests
Colorectal cancer, hereditary nonpolyposis, type 61 test
Colorectal cancer, hereditary nonpolyposis, type 71 test
Combined immunodeficiency, X-linked1 test
Combined oxidative phosphorylation defect type 71 test
Combined PSAP deficiency1 test
Complement component 9 deficiency1 test
Complete trisomy 21 syndrome1 test
Cone dystrophy 32 tests
Cone dystrophy 42 tests
Cone dystrophy with supernormal rod response1 test
Cone-rod dystrophy 101 test
Cone-rod dystrophy 111 test
Cone-rod dystrophy 121 test
Cone-rod dystrophy 132 tests
Cone-rod dystrophy 151 test
Cone-rod dystrophy 162 tests
Cone-rod dystrophy 24 tests
Cone-rod dystrophy 32 tests
Cone-rod dystrophy 51 test
Cone-rod dystrophy 61 test
Cone-rod dystrophy 71 test
Cone-rod dystrophy 91 test
Cone-rod synaptic disorder, congenital nonprogressive1 test
Congenital adrenal hypoplasia, X-linked2 tests
Congenital amegakaryocytic thrombocytopenia1 test
Congenital bile acid synthesis defect 51 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital central hypoventilation3 tests
Congenital chromosomal disease4 tests
Congenital contractural arachnodactyly3 tests
Congenital diarrhea 5 with tufting enteropathy1 test
Congenital disorder of glycosylation type 1E1 test
Congenital disorder of glycosylation type Ir1 test
Congenital dyserythropoietic anemia type 41 test
Congenital dyserythropoietic anemia type type 1B1 test
Congenital dyserythropoietic anemia, type I1 test
Congenital dyserythropoietic anemia, type II2 tests
Congenital generalized lipodystrophy type 11 test
Congenital glucose-galactose malabsorption1 test
Congenital hyperammonemia, type I2 tests
Congenital hypoplastic anemia3 tests
Congenital hypotrichosis with juvenile macular dystrophy1 test
Congenital malabsorptive diarrhea 41 test
Congenital multicore myopathy with external ophthalmoplegia1 test
Congenital muscular dystrophy due to integrin alpha-7 deficiency1 test
Congenital muscular dystrophy due to LMNA mutation1 test
Congenital muscular hypertrophy-cerebral syndrome2 tests
Congenital myasthenic syndrome 102 tests
Congenital myasthenic syndrome 111 test
Congenital myasthenic syndrome 122 tests
Congenital myasthenic syndrome 132 tests
Congenital myasthenic syndrome 141 test
Congenital myasthenic syndrome 162 tests
Congenital myasthenic syndrome 2A1 test
Congenital myasthenic syndrome 2C1 test
Congenital myasthenic syndrome 3A1 test
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 3C1 test
Congenital myasthenic syndrome 4A1 test
Congenital myasthenic syndrome 4B1 test
Congenital myasthenic syndrome 4C3 tests
Congenital myasthenic syndrome 52 tests
Congenital myasthenic syndrome 81 test
Congenital myasthenic syndrome 91 test
Congenital myopathy 4B, autosomal recessive4 tests
Congenital myopathy with fiber type disproportion4 tests
Congenital myotonia, autosomal dominant form2 tests
Congenital myotonia, autosomal recessive form1 test
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Corneal dystrophy, Fuchs endothelial, 11 test
Corneal dystrophy, Meesmann, 12 tests
Cornelia de Lange syndrome 13 tests
Cornelia de Lange syndrome 31 test
Cornelia de Lange syndrome 41 test
Cornelia de Lange syndrome 51 test
Corpus callosum agenesis-abnormal genitalia syndrome1 test
Cortical dysplasia-focal epilepsy syndrome1 test
Corticosterone 18-monooxygenase deficiency1 test
Corticosterone methyloxidase type 2 deficiency1 test
Costello syndrome3 tests
Cowden syndrome 11 test
Cowden syndrome 51 test
Cowden syndrome 71 test
Cranioectodermal dysplasia 11 test
Cranioectodermal dysplasia 21 test
Cranioectodermal dysplasia 31 test
Cranioectodermal dysplasia 41 test
Craniofacial dysostosis2 tests
Craniofrontonasal syndrome1 test
Craniosynostosis 21 test
Craniosynostosis and dental anomalies1 test
Creatine transporter deficiency1 test
Crigler-Najjar syndrome1 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome-acanthosis nigricans syndrome1 test
Cryohydrocytosis1 test
Currarino triad1 test
Curry-Hall syndrome1 test
Cutis laxa with osteodystrophy1 test
Cutis laxa, autosomal dominant 12 tests
Cystic fibrosis6 tests
Cystic leukoencephalopathy without megalencephaly1 test
Cytochrome-c oxidase deficiency disease3 tests
Dalmatian hypouricemia1 test
Danon disease4 tests
Deafness dystonia syndrome2 tests
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
Deafness-lymphedema-leukemia syndrome2 tests
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of ferroxidase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of iodide peroxidase2 tests
Deficiency of steroid 11-beta-monooxygenase1 test
Deficiency of steroid 17-alpha-monooxygenase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Dejerine-Sottas disease5 tests
Dent disease type 12 tests
Dent disease type 22 tests
Dentatorubral-pallidoluysian atrophy2 tests
Dentinogenesis imperfecta type 21 test
Dermatitis, atopic, 21 test
Dermatofibrosarcoma protuberans1 test
Desbuquois dysplasia 11 test
Desbuquois dysplasia 21 test
Desmin-related myofibrillar myopathy5 tests
Developmental and epileptic encephalopathy 941 test
Developmental and epileptic encephalopathy, 14 tests
Developmental and epileptic encephalopathy, 115 tests
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 132 tests
Developmental and epileptic encephalopathy, 151 test
Developmental and epileptic encephalopathy, 161 test
Developmental and epileptic encephalopathy, 193 tests
Developmental and epileptic encephalopathy, 24 tests
Developmental and epileptic encephalopathy, 241 test
Developmental and epileptic encephalopathy, 271 test
Developmental and epileptic encephalopathy, 281 test
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 311 test
Developmental and epileptic encephalopathy, 361 test
Developmental and epileptic encephalopathy, 391 test
Developmental and epileptic encephalopathy, 43 tests
Developmental and epileptic encephalopathy, 51 test
Developmental and epileptic encephalopathy, 73 tests
Developmental and epileptic encephalopathy, 81 test
Developmental and epileptic encephalopathy, 95 tests
Developmental delay with autism spectrum disorder and gait instability1 test
Developmental malformations-deafness-dystonia syndrome1 test
Diabetes insipidus, nephrogenic, X-linked1 test
Diabetes mellitus type 11 test
Diabetes mellitus, transient neonatal, 21 test
Diabetes mellitus, transient neonatal, 32 tests
Diabetes-deafness syndrome maternally transmitted2 tests
Diamond-Blackfan anemia 12 tests
Diamond-Blackfan anemia 102 tests
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 82 tests
Diamond-Blackfan anemia 92 tests
Diaphyseal dysplasia1 test
Diastrophic dysplasia3 tests
DiGeorge syndrome2 tests
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1A3 tests
Dilated cardiomyopathy 1AA2 tests
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1C3 tests
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1D2 tests
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1E2 tests
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G4 tests
Dilated cardiomyopathy 1HH1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R2 tests
Dilated cardiomyopathy 1S2 tests
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1U1 test
Dilated cardiomyopathy 1V1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1Y2 tests
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 3B1 test
Disorder due cytochrome p450 CYP2D6 variant1 test
Distal arthrogryposis type 2B15 tests
Distal myopathy with anterior tibial onset2 tests
Distichiasis-lymphedema syndrome2 tests
DK1-congenital disorder of glycosylation1 test
Dominant dystrophic epidermolysis bullosa with absence of skin1 test
Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
Dowling-Degos disease 11 test
DPAGT1-congenital disorder of glycosylation2 tests
DPM3-congenital disorder of glycosylation2 tests
Duane retraction syndrome 21 test
Duchenne muscular dystrophy2 tests
Dyskeratosis congenita, autosomal dominant 31 test
Dyskeratosis congenita, autosomal recessive 11 test
Dyskeratosis congenita, X-linked1 test
Dystonia 122 tests
Dystonia 161 test
Dystonia 53 tests
Dystonia 91 test
Early myoclonic encephalopathy1 test
Early-onset generalized limb-onset dystonia2 tests
Early-onset myopathy with fatal cardiomyopathy2 tests
EAST syndrome1 test
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant3 tests
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive2 tests
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant3 tests
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive3 tests
Ectodermal dysplasia and immunodeficiency 12 tests
Ectodermal dysplasia and immunodeficiency 21 test
Ectopia lentis 1, isolated, autosomal dominant1 test
Ectopia lentis 2, isolated, autosomal recessive1 test
Ectopia lentis et pupillae2 tests
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 32 tests
EEM syndrome2 tests
Efavirenz response1 test
Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
Ehlers-Danlos syndrome progeroid type2 tests
Ehlers-Danlos syndrome, arthrochalasis type2 tests
Ehlers-Danlos syndrome, cardiac valvular type2 tests
Ehlers-Danlos syndrome, classic type6 tests
Ehlers-Danlos syndrome, dermatosparaxis type1 test
Ehlers-Danlos syndrome, kyphoscoliotic type 12 tests
Ehlers-Danlos syndrome, musculocontractural type2 tests
Ehlers-Danlos syndrome, spondylocheirodysplastic type1 test
Ehlers-Danlos syndrome, type 34 tests
Ehlers-Danlos syndrome, type 44 tests
Eichsfeld type congenital muscular dystrophy1 test
Eiken syndrome1 test
Elliptocytosis 21 test
Ellis-van Creveld syndrome2 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
Encephalopathy due to GLUT1 deficiency2 tests
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1 test
Endometrial carcinoma4 tests
Epidermolysis bullosa pruriginosa1 test
Epidermolysis bullosa simplex 1A, generalized severe2 tests
Epidermolysis bullosa simplex 1C, localized2 tests
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive1 test
Epidermolysis bullosa simplex 5C, with pyloric atresia1 test
Epidermolysis bullosa simplex with migratory circinate erythema1 test
Epidermolysis bullosa simplex with mottled pigmentation1 test
Epidermolysis bullosa simplex, Koebner type2 tests
Epidermolysis bullosa simplex, Ogna type1 test
Epilepsy, childhood absence 22 tests
Epilepsy, childhood absence, susceptibility to, 11 test
Epilepsy, childhood absence, susceptibility to, 52 tests
Epilepsy, childhood absence, susceptibility to, 62 tests
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, familial temporal lobe, 12 tests
Epilepsy, idiopathic generalized, susceptibility to, 102 tests
Epilepsy, idiopathic generalized, susceptibility to, 111 test
Epilepsy, idiopathic generalized, susceptibility to, 123 tests
Epilepsy, idiopathic generalized, susceptibility to, 132 tests
Epilepsy, idiopathic generalized, susceptibility to, 71 test
Epilepsy, idiopathic generalized, susceptibility to, 92 tests
Epiphyseal dysplasia, multiple, 22 tests
Epiphyseal dysplasia, multiple, 32 tests
Epiphyseal dysplasia, multiple, 62 tests
Episodic ataxia type 15 tests
Episodic ataxia type 25 tests
Episodic ataxia type 54 tests
Episodic ataxia type 64 tests
Episodic kinesigenic dyskinesia 11 test
Erythrocytosis, familial, 32 tests
Erythrocytosis, familial, 41 test
Essential hypertension1 test
Exercise-induced hyperinsulinism1 test
Exostoses, multiple, type 23 tests
Exudative vitreoretinopathy 13 tests
Exudative vitreoretinopathy 2, X-linked3 tests
Exudative vitreoretinopathy 43 tests
Exudative vitreoretinopathy 51 test
Factor VII deficiency1 test
Factor XII deficiency disease1 test
Familial adenomatous polyposis 15 tests
Familial adenomatous polyposis 23 tests
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial apolipoprotein C-II deficiency2 tests
Familial atrial myxoma1 test
Familial benign pemphigus1 test
Familial cancer of breast12 tests
Familial colorectal cancer1 test
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome1 test
Familial digital arthropathy-brachydactyly1 test
Familial dysautonomia2 tests
Familial hemophagocytic lymphohistiocytosis 22 tests
Familial hemophagocytic lymphohistiocytosis 32 tests
Familial hemophagocytic lymphohistiocytosis 42 tests
Familial hemophagocytic lymphohistiocytosis 51 test
Familial hyperaldosteronism type III1 test
Familial hyperthyroidism due to mutations in TSH receptor1 test
Familial hypobetalipoproteinemia 11 test
Familial hypobetalipoproteinemia 21 test
Familial hypocalciuric hypercalcemia 14 tests
Familial hypocalciuric hypercalcemia 21 test
Familial hypocalciuric hypercalcemia 32 tests
Familial hypokalemia-hypomagnesemia3 tests
Familial hypoparathyroidism4 tests
Familial infantile myasthenia3 tests
Familial isolated deficiency of vitamin E4 tests
Familial juvenile hyperuricemic nephropathy type 11 test
Familial Mediterranean fever5 tests
Familial medullary thyroid carcinoma6 tests
Familial meningioma3 tests
Familial partial lipodystrophy, Dunnigan type1 test
Familial porphyria cutanea tarda1 test
Familial renal glucosuria1 test
Familial steroid-resistant nephrotic syndrome with sensorineural deafness1 test
Familial temporal lobe epilepsy 51 test
Familial temporal lobe epilepsy 71 test
Familial thyroid dyshormonogenesis 12 tests
Familial type 5 hyperlipoproteinemia2 tests
Familial visceral amyloidosis, Ostertag type1 test
Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
Fanconi anemia complementation group A3 tests
Fanconi anemia complementation group B2 tests
Fanconi anemia complementation group C2 tests
Fanconi anemia complementation group D12 tests
Fanconi anemia complementation group D22 tests
Fanconi anemia complementation group E2 tests
Fanconi anemia complementation group F2 tests
Fanconi anemia complementation group G2 tests
Fanconi anemia complementation group I2 tests
Fanconi anemia complementation group J3 tests
Fanconi anemia complementation group L2 tests
Fanconi anemia complementation group N2 tests
Fanconi anemia complementation group O2 tests
Fanconi anemia complementation group P2 tests
Fanconi anemia complementation group Q1 test
Fanconi-Bickel syndrome3 tests
Farber lipogranulomatosis1 test
Febrile seizures, familial, 111 test
Febrile seizures, familial, 83 tests
Feingold syndrome type 12 tests
Fetal akinesia deformation sequence 12 tests
Fibrochondrogenesis 11 test
Fibrochondrogenesis 21 test
Fibrous dysplasia of jaw1 test
Finnish congenital nephrotic syndrome3 tests
Floating-Harbor syndrome1 test
Focal dermal hypoplasia1 test
Focal facial dermal dysplasia type III1 test
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 22 tests
Focal segmental glomerulosclerosis 3, susceptibility to2 tests
Focal segmental glomerulosclerosis 53 tests
Focal segmental glomerulosclerosis 62 tests
Focal segmental glomerulosclerosis 71 test
Fragile X syndrome1 test
Frank-Ter Haar syndrome2 tests
Fraser syndrome 11 test
FRAXE2 tests
Freeman-Sheldon syndrome2 tests
Friedreich ataxia 13 tests
Frontotemporal dementia2 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 62 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 72 tests
Fructose-biphosphatase deficiency1 test
Fuhrmann syndrome1 test
Galactosylceramide beta-galactosidase deficiency3 tests
Gastrointestinal stroma tumor7 tests
Gaucher disease due to saposin C deficiency1 test
Gaucher disease perinatal lethal2 tests
Gaucher disease type I2 tests
Gaucher disease type II2 tests
Gaucher disease type III2 tests
Geleophysic dysplasia 21 test
Generalized dominant dystrophic epidermolysis bullosa3 tests
Generalized epilepsy with febrile seizures plus, type 13 tests
Generalized epilepsy with febrile seizures plus, type 23 tests
Generalized epilepsy with febrile seizures plus, type 72 tests
Generalized epilepsy-paroxysmal dyskinesia syndrome1 test
Generalized juvenile polyposis/juvenile polyposis coli4 tests
Geroderma osteodysplastica1 test
Giant axonal neuropathy 11 test
Gilbert syndrome1 test
Glaucoma 1, open angle, A3 tests
Glaucoma 1, open angle, F2 tests
Glaucoma 1, open angle, G2 tests
Glaucoma 1, open angle, O2 tests
Glaucoma 3, primary congenital, D3 tests
Glaucoma 3A3 tests
Glaucoma, normal tension, susceptibility to1 test
Glucocorticoid deficiency with achalasia2 tests
Glucocorticoid resistance1 test
Glucocorticoid-remediable aldosteronism1 test
Glucose-6-phosphate transport defect4 tests
Glutaric aciduria, type 13 tests
Gluthathione synthetase deficiency1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA4 tests
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency2 tests
Glycogen storage disease due to muscle and heart glycogen synthase deficiency2 tests
Glycogen storage disease due to muscle beta-enolase deficiency2 tests
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency2 tests
Glycogen storage disease IXa12 tests
Glycogen storage disease IXb1 test
Glycogen storage disease IXc1 test
Glycogen storage disease IXd2 tests
Glycogen storage disease type III5 tests
Glycogen storage disease type X3 tests
Glycogen storage disease XV2 tests
Glycogen storage disease, type II5 tests
Glycogen storage disease, type IV3 tests
Glycogen storage disease, type V6 tests
Glycogen storage disease, type VI2 tests
Glycogen storage disease, type VII4 tests
Glycogen storage disorder due to hepatic glycogen synthase deficiency2 tests
GNE myopathy2 tests
GNPTG-mucolipidosis2 tests
Gorlin syndrome2 tests
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 21 test
Granulomatous disease, chronic, X-linked1 test
Greenberg dysplasia1 test
Greig cephalopolysyndactyly syndrome2 tests
Griscelli syndrome type 12 tests
Griscelli syndrome type 23 tests
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions2 tests
Hair morphology 11 test
Hb SS disease1 test
Hemochromatosis type 12 tests
Hemochromatosis type 2A1 test
Hemochromatosis type 2B1 test
Hemochromatosis type 33 tests
Hemochromatosis type 41 test
Hemolytic uremic syndrome, atypical, susceptibility to, 13 tests
Hennekam lymphangiectasia-lymphedema syndrome 11 test
Hepatic methionine adenosyltransferase deficiency1 test
Hepatocellular carcinoma1 test
Hereditary acrodermatitis enteropathica1 test
Hereditary angioedema type 11 test
Hereditary angioedema type 31 test
Hereditary antithrombin deficiency3 tests
Hereditary coproporphyria2 tests
Hereditary diffuse gastric adenocarcinoma4 tests
Hereditary diffuse leukoencephalopathy with spheroids1 test
Hereditary factor IX deficiency disease2 tests
Hereditary factor VIII deficiency disease1 test
Hereditary fructosuria2 tests
Hereditary hyperferritinemia with congenital cataracts2 tests
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary liability to pressure palsies1 test
Hereditary lymphedema type I2 tests
Hereditary motor and sensory neuropathy with optic atrophy1 test
Hereditary neutrophilia1 test
Hereditary pancreatitis8 tests
Hereditary sensory neuropathy-deafness-dementia syndrome1 test
Hereditary spastic paraplegia 102 tests
Hereditary spastic paraplegia 112 tests
Hereditary spastic paraplegia 131 test
Hereditary spastic paraplegia 173 tests
Hereditary spastic paraplegia 23 tests
Hereditary spastic paraplegia 301 test
Hereditary spastic paraplegia 312 tests
Hereditary spastic paraplegia 331 test
Hereditary spastic paraplegia 353 tests
Hereditary spastic paraplegia 391 test
Hereditary spastic paraplegia 3A2 tests
Hereditary spastic paraplegia 43 tests
Hereditary spastic paraplegia 421 test
Hereditary spastic paraplegia 431 test
Hereditary spastic paraplegia 442 tests
Hereditary spastic paraplegia 481 test
Hereditary spastic paraplegia 551 test
Hereditary spastic paraplegia 5A1 test
Hereditary spastic paraplegia 61 test
Hereditary spastic paraplegia 73 tests
Hereditary spastic paraplegia 81 test
Hereditary spherocytosis type 12 tests
Hereditary spherocytosis type 21 test
Hereditary spherocytosis type 31 test
Hereditary spherocytosis type 41 test
Hereditary spherocytosis type 51 test
Heterotaxy, visceral, 1, X-linked1 test
Heterotaxy, visceral, 5, autosomal2 tests
Heterotopia, periventricular, X-linked dominant1 test
Hirschsprung disease, susceptibility to, 12 tests
HNSHA due to aldolase A deficiency1 test
Holoprosencephaly 111 test
Holoprosencephaly 22 tests
Holoprosencephaly 31 test
Holoprosencephaly 42 tests
Holoprosencephaly 52 tests
Holoprosencephaly 72 tests
Holoprosencephaly 91 test
Holt-Oram syndrome1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2 tests
Human HOXA1 syndromes1 test
Huntington disease1 test
Hydrocephalus, nonsyndromic, autosomal recessive 11 test
Hydrocephalus, nonsyndromic, autosomal recessive 21 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
Hyper-IgM syndrome type 11 test
Hyperammonemia, type III1 test
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency1 test
Hypercholesterolemia, autosomal dominant, 32 tests
Hypercholesterolemia, autosomal dominant, type B4 tests
Hypercholesterolemia, familial, 11 test
Hypercholesterolemia, familial, 41 test
Hyperekplexia 12 tests
Hyperekplexia 21 test
Hyperekplexia 32 tests
Hyperimmunoglobulin D with periodic fever3 tests
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperinsulinemic hypoglycemia, familial, 22 tests
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperinsulinism due to glucokinase deficiency1 test
Hyperinsulinism due to INSR deficiency1 test
Hyperinsulinism-hyperammonemia syndrome3 tests
Hyperlipidemia, familial combined, LPL related2 tests
Hyperlipoproteinemia, type 1D1 test
Hyperlipoproteinemia, type I4 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Hyperparathyroidism 12 tests
Hyperparathyroidism 2 with jaw tumors2 tests
Hypertriglyceridemia 12 tests
Hypertrophic cardiomyopathy 13 tests
Hypertrophic cardiomyopathy 102 tests
Hypertrophic cardiomyopathy 112 tests
Hypertrophic cardiomyopathy 121 test
Hypertrophic cardiomyopathy 132 tests
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 151 test
Hypertrophic cardiomyopathy 161 test
Hypertrophic cardiomyopathy 171 test
Hypertrophic cardiomyopathy 181 test
Hypertrophic cardiomyopathy 22 tests
Hypertrophic cardiomyopathy 201 test
Hypertrophic cardiomyopathy 252 tests
Hypertrophic cardiomyopathy 32 tests
Hypertrophic cardiomyopathy 43 tests
Hypertrophic cardiomyopathy 61 test
Hypertrophic cardiomyopathy 72 tests
Hypertrophic cardiomyopathy 82 tests
Hypertrophic cardiomyopathy 94 tests
Hypochondroplasia3 tests
Hypogonadotropic hypogonadism 1 with or without anosmia3 tests
Hypogonadotropic hypogonadism 10 with or without anosmia2 tests
Hypogonadotropic hypogonadism 11 with or without anosmia2 tests
Hypogonadotropic hypogonadism 12 with or without anosmia2 tests
Hypogonadotropic hypogonadism 13 with or without anosmia1 test
Hypogonadotropic hypogonadism 14 with or without anosmia1 test
Hypogonadotropic hypogonadism 15 with or without anosmia1 test
Hypogonadotropic hypogonadism 16 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia2 tests
Hypogonadotropic hypogonadism 3 with or without anosmia1 test
Hypogonadotropic hypogonadism 4 with or without anosmia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
Hypogonadotropic hypogonadism 6 with or without anosmia3 tests
Hypogonadotropic hypogonadism 7 with or without anosmia2 tests
Hypogonadotropic hypogonadism 8 with or without anosmia2 tests
Hypogonadotropic hypogonadism 9 with or without anosmia1 test
Hypohidrotic X-linked ectodermal dysplasia2 tests
Hypokalemic periodic paralysis, type 14 tests
Hypokalemic periodic paralysis, type 22 tests
Hypomyelinating leukodystrophy 21 test
Hypomyelinating leukodystrophy 31 test
Hypomyelinating leukodystrophy 41 test
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1 test
Hypomyelination and Congenital Cataract1 test
Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome1 test
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration3 tests
Hypothyroidism due to TSH receptor mutations2 tests
Hypothyroidism, congenital, nongoitrous, 21 test
Hypothyroidism, congenital, nongoitrous, 51 test
Hypotrichosis-lymphedema-telangiectasia syndrome1 test
Ichthyosis bullosa of Siemens2 tests
Ichthyosis vulgaris1 test
Idiopathic basal ganglia calcification 11 test
Idiopathic CD4 lymphocytopenia1 test
IL21-related infantile inflammatory bowel disease1 test
Imerslund-Grasbeck syndrome1 test
Immunodeficiency 141 test
Immunodeficiency due to CD25 deficiency1 test
Immunodeficiency, common variable, 12 tests
Immunodeficiency, common variable, 121 test
Immunodeficiency, common variable, 22 tests
Immunodeficiency, common variable, 31 test
Immunodeficiency, common variable, 41 test
Immunodeficiency, common variable, 51 test
Immunodeficiency, common variable, 61 test
Immunodeficiency, common variable, 71 test
Immunoglobulin A deficiency 21 test
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
Incontinentia pigmenti syndrome1 test
Infantile cortical hyperostosis1 test
Infantile GM1 gangliosidosis1 test
Infantile hypophosphatasia1 test
Infantile nephronophthisis2 tests
Infantile neuroaxonal dystrophy3 tests
Infantile-onset ascending hereditary spastic paralysis1 test
Infantile-onset X-linked spinal muscular atrophy1 test
Inflammatory bowel disease 12 tests
Inherited Creutzfeldt-Jakob disease1 test
Intellectual disability1 test
Intellectual disability, autosomal dominant 11 test
Intellectual disability, autosomal dominant 141 test
Intellectual disability, autosomal dominant 151 test
Intellectual disability, autosomal dominant 162 tests
Intellectual disability, autosomal dominant 201 test
Intellectual disability, autosomal recessive 73 tests
Intellectual disability, X-linked 191 test
Intellectual disability, X-linked 211 test
Intellectual disability, X-linked 301 test
Intellectual disability, X-linked 411 test
Intellectual disability, X-linked 451 test
Intellectual disability, X-linked 461 test
Intellectual disability, X-linked 581 test
Intellectual disability, X-linked 631 test
Intellectual disability, X-linked 91 test
Intellectual disability, X-linked 901 test
Intellectual disability, X-linked 931 test
Intellectual disability, X-linked 961 test
Intellectual disability, X-linked 971 test
Intellectual disability, X-linked syndromic, Turner type1 test
Intellectual disability, X-linked, with or without seizures, arx-related2 tests
Intellectual disability, X-linked, with panhypopituitarism1 test
Intellectual disability-hypotonic facies syndrome, X-linked, 11 test
Intellectual disability-severe speech delay-mild dysmorphism syndrome1 test
Interstitial lung disease 24 tests
Interstitial lung disease due to ABCA3 deficiency2 tests
Intervertebral disc disorder2 tests
Intestinal hypomagnesemia 11 test
Iodotyrosine deiodination defect2 tests
Iodotyrosyl coupling defect3 tests
Irido-corneo-trabecular dysgenesis1 test
Isolated growth hormone deficiency type IB2 tests
Isolated microphthalmia 24 tests
Isolated microphthalmia 52 tests
Isolated microphthalmia 62 tests
Isolated optic nerve hypoplasia1 test
Isolated thyroid-stimulating hormone deficiency1 test
Isovaleryl-CoA dehydrogenase deficiency2 tests
Jackson-Weiss syndrome3 tests
Jalili syndrome1 test
Jervell and Lange-Nielsen syndrome 21 test
Joubert syndrome 101 test
Joubert syndrome 131 test
Joubert syndrome 151 test
Joubert syndrome 161 test
Joubert syndrome 171 test
Joubert syndrome 21 test
Joubert syndrome 241 test
Joubert syndrome 33 tests
Joubert syndrome 51 test
Joubert syndrome 61 test
Joubert syndrome 71 test
Joubert syndrome 81 test
Joubert syndrome with renal defect1 test
Junctional epidermolysis bullosa gravis of Herlitz2 tests
Junctional epidermolysis bullosa, non-Herlitz type2 tests
Juvenile myoclonic epilepsy3 tests
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
Juvenile nephropathic cystinosis1 test
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
Juvenile retinoschisis2 tests
Kabuki syndrome 13 tests
Kabuki syndrome 22 tests
Kartagener syndrome2 tests
KBG syndrome1 test
Kearns-Sayre syndrome1 test
Kennedy disease1 test
Keratosis follicularis1 test
Keratosis follicularis spinulosa decalvans, X-linked1 test
Klippel-Feil syndrome 1, autosomal dominant1 test
Klippel-Feil syndrome 3, autosomal dominant1 test
Kniest dysplasia2 tests
Knobloch syndrome1 test
Kostmann syndrome2 tests
Krabbe disease due to saposin A deficiency1 test
Kufor-Rakeb syndrome2 tests
Kugelberg-Welander disease2 tests
L-ferritin deficiency1 test
Lafora disease4 tests
LAMB2-related infantile-onset nephrotic syndrome2 tests
Landau-Kleffner syndrome1 test
Laron-type isolated somatotropin defect1 test
Larsen syndrome2 tests
Larsen-like syndrome, B3GAT3 type1 test
Late-onset retinal degeneration1 test
LCAT deficiency1 test
Leber congenital amaurosis 12 tests
Leber congenital amaurosis 101 test
Leber congenital amaurosis 111 test
Leber congenital amaurosis 121 test
Leber congenital amaurosis 133 tests
Leber congenital amaurosis 141 test
Leber congenital amaurosis 151 test
Leber congenital amaurosis 161 test
Leber congenital amaurosis 22 tests
Leber congenital amaurosis 32 tests
Leber congenital amaurosis 42 tests
Leber congenital amaurosis 51 test
Leber congenital amaurosis 62 tests
Leber congenital amaurosis 73 tests
Leber congenital amaurosis 81 test
Leber congenital amaurosis 91 test
Leber optic atrophy2 tests
Left ventricular noncompaction 11 test
Left ventricular noncompaction 102 tests
Legius syndrome1 test
Leigh syndrome4 tests
LEOPARD syndrome 13 tests
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Leri-Weill dyschondrosteosis2 tests
Lesch-Nyhan syndrome1 test
Lethal congenital glycogen storage disease of heart2 tests
Lethal Kniest-like syndrome1 test
Lethal tight skin contracture syndrome2 tests
Leukocyte adhesion deficiency type II2 tests
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
Leydig cell agenesis2 tests
Li-Fraumeni syndrome 11 test
Liddle syndrome 13 tests
Lipase deficiency, combined1 test
LIPE-related familial partial lipodystrophy1 test
Lissencephaly 41 test
Lissencephaly due to LIS1 mutation3 tests
Lissencephaly due to TUBA1A mutation1 test
Lissencephaly type 1 due to doublecortin gene mutation4 tests
Loeys-Dietz syndrome 14 tests
Loeys-Dietz syndrome 24 tests
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 142 tests
Long QT syndrome 23 tests
Long QT syndrome 32 tests
Long QT syndrome 53 tests
Long QT syndrome 63 tests
Long QT syndrome 91 test
Lowe syndrome1 test
Lung carcinoma4 tests
Lymphatic malformation 31 test
Lynch syndrome 15 tests
Lynch syndrome 44 tests
Lynch syndrome 55 tests
Lynch syndrome 83 tests
Lysosomal acid lipase deficiency1 test
Macrocephaly-autism syndrome1 test
Macroglobulinemia, Waldenstrom, 11 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macular degeneration, early-onset1 test
Majeed syndrome1 test
Malan overgrowth syndrome1 test
Malignant eosinophil proliferation1 test
Malignant hyperthermia, susceptibility to, 14 tests
Malignant hyperthermia, susceptibility to, 51 test
Malignant tumor of esophagus1 test
Malignant tumor of prostate2 tests
Malignant tumor of testis2 tests
Malignant tumor of urinary bladder1 test
Mannose-binding lectin deficiency1 test
Maple syrup urine disease2 tests
Marfan syndrome4 tests
Marinesco-Sjögren syndrome2 tests
Marshall syndrome1 test
Marshall-Smith syndrome1 test
MASA syndrome1 test
MASS syndrome1 test
Matthew-Wood syndrome1 test
Maturity-onset diabetes of the young type 13 tests
Maturity-onset diabetes of the young type 101 test
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 22 tests
Maturity-onset diabetes of the young type 34 tests
Maturity-onset diabetes of the young type 43 tests
Maturity-onset diabetes of the young type 63 tests
Maturity-onset diabetes of the young type 72 tests
Maturity-onset diabetes of the young type 92 tests
McCune-Albright syndrome3 tests
Meckel syndrome, type 11 test
Meckel syndrome, type 101 test
Meckel syndrome, type 21 test
Meckel syndrome, type 31 test
Meckel syndrome, type 42 tests
Meckel syndrome, type 52 tests
Meckel syndrome, type 61 test
Meckel syndrome, type 82 tests
Meckel syndrome, type 91 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
Medulloblastoma1 test
Megalencephalic leukoencephalopathy with subcortical cysts 12 tests
Megalencephalic leukoencephalopathy with subcortical cysts 2A2 tests
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
Melanoma and neural system tumor syndrome2 tests
Melanoma, cutaneous malignant, susceptibility to, 23 tests
Melanoma, cutaneous malignant, susceptibility to, 33 tests
Melanoma-pancreatic cancer syndrome1 test
MEND syndrome1 test
Menkes kinky-hair syndrome2 tests
Merosin deficient congenital muscular dystrophy3 tests
MERRF syndrome1 test
Metachromatic leukodystrophy2 tests
Metaphyseal anadysplasia 21 test
Metaphyseal chondrodysplasia, Jansen type2 tests
Metaphyseal chondrodysplasia, McKusick type2 tests
Metaphyseal chondrodysplasia, Schmid type2 tests
Metaphyseal dysplasia without hypotrichosis1 test
Metatropic dysplasia1 test
Methylmalonic aciduria and homocystinuria type cblD1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2 tests
Methylmalonic aciduria, cblA type2 tests
Methylmalonic aciduria, cblB type1 test
MGAT2-congenital disorder of glycosylation2 tests
MHC class II deficiency5 tests
Microcephaly 12, primary, autosomal recessive1 test
Microcephaly 3, primary, autosomal recessive1 test
Microcephaly 4, primary, autosomal recessive1 test
Microcephaly 5, primary, autosomal recessive2 tests
Microcephaly 6, primary, autosomal recessive1 test
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1 test
Microcephaly, normal intelligence and immunodeficiency3 tests
Microcephaly, seizures, and developmental delay1 test
Microphthalmia, isolated, with coloboma 32 tests
Microphthalmia, syndromic 121 test
Microspherophakia1 test
Migraine, familial hemiplegic, 13 tests
Migraine, familial hemiplegic, 22 tests
Migraine, familial hemiplegic, 32 tests
Miller Dieker syndrome2 tests
Mitochondrial complex I deficiency2 tests
Mitochondrial complex II deficiency, nuclear type 12 tests
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 DNA depletion syndrome 6 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 8a1 test
Mitochondrial non-syndromic sensorineural hearing loss3 tests
Miyoshi muscular dystrophy 12 tests
Miyoshi muscular dystrophy 32 tests
MOGS-congenital disorder of glycosylation2 tests
Monocytopenia with susceptibility to infections1 test
Mowat-Wilson syndrome2 tests
Moyamoya disease 51 test
MPDU1-congenital disorder of glycosylation1 test
MPI-congenital disorder of glycosylation2 tests
Mucolipidosis type II1 test
Mucopolysaccharidosis type 61 test
Mucopolysaccharidosis, MPS-I-H/S2 tests
Mucopolysaccharidosis, MPS-II1 test
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-IV-B1 test
Muenke syndrome1 test
Muir-Torré syndrome3 tests
Mullerian aplasia and hyperandrogenism1 test
Multiple acyl-CoA dehydrogenase deficiency2 tests
Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
Multiple congenital exostosis3 tests
Multiple cutaneous leiomyomas1 test
Multiple endocrine neoplasia type 42 tests
Multiple endocrine neoplasia, type 13 tests
Multiple endocrine neoplasia, type 2a6 tests
Multiple endocrine neoplasia, type 2b5 tests
Multiple epiphyseal dysplasia type 13 tests
Multiple epiphyseal dysplasia type 42 tests
Multiple epiphyseal dysplasia type 52 tests
Multiple Epiphyseal Dysplasia, Dominant1 test
Multiple fibrofolliculomas3 tests
Multiple self-healing squamous epithelioma1 test
Multiple sulfatase deficiency1 test
Multiple system atrophy2 tests
Multisystemic smooth muscle dysfunction syndrome1 test
Muscle AMP deaminase deficiency1 test
Muscle eye brain disease6 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 46 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 74 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A12 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A132 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A24 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A56 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A62 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A91 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B15 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B24 tests
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B34 tests
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B44 tests
Muscular dystrophy-dystroglycanopathy type B57 tests
Muscular dystrophy-dystroglycanopathy type B62 tests
Myasthenic syndrome, congenital, 1B, fast-channel4 tests
Myasthenic syndrome, slow-channel congenital4 tests
Myelodysplastic syndrome1 test
MYH7-related skeletal myopathy1 test
Myoclonic dystonia 114 tests
Myofibrillar myopathy 21 test
Myofibrillar myopathy 34 tests
Myofibrillar myopathy 41 test
Myofibrillar myopathy 51 test
Myofibrillar myopathy 61 test
Myofibromatosis, infantile, 11 test
Myoglobinuria, acute recurrent, autosomal recessive1 test
Myopathy, myofibrillar, 9, with early respiratory failure2 tests
Myopathy, myosin storage, autosomal recessive2 tests
Myopathy, reducing body, X-linked, childhood-onset1 test
Myopathy, reducing body, X-linked, early-onset, severe1 test
Myopia 61 test
Myosin storage myopathy2 tests
Myotonic dystrophy type 21 test
NAFLD11 test
Nager syndrome1 test
Nail-patella syndrome2 tests
Nanophthalmos 21 test
NARP syndrome1 test
Nemaline myopathy 22 tests
Nemaline myopathy 42 tests
Nemaline myopathy 51 test
Nemaline myopathy 71 test
Neonatal acute respiratory distress due to SP-B deficiency2 tests
Neonatal diabetes mellitus with congenital hypothyroidism1 test
Neonatal intrahepatic cholestasis due to citrin deficiency1 test
Neoplasm of ovary1 test
Neoplasm of stomach3 tests
Nephronophthisis 13 tests
Nephronophthisis 121 test
Nephronophthisis 131 test
Nephronophthisis 161 test
Nephronophthisis 32 tests
Nephronophthisis 41 test
Nephronophthisis 71 test
Nephronophthisis 91 test
Nephropathic cystinosis1 test
Nephrotic syndrome, type 23 tests
Nephrotic syndrome, type 32 tests
Nephrotic syndrome, type 43 tests
Nephrotic syndrome, type 61 test
Nephrotic syndrome, type 81 test
Netherton syndrome2 tests
Neurodegeneration with brain iron accumulation 2B2 tests
Neurodegeneration with brain iron accumulation 41 test
Neurodegeneration with brain iron accumulation 51 test
Neurodegeneration with brain iron accumulation 61 test
Neuroferritinopathy2 tests
Neurofibromatosis, type 16 tests
Neurofibromatosis, type 22 tests
Neuronal ceroid lipofuscinosis 13 tests
Neuronal ceroid lipofuscinosis 102 tests
Neuronal ceroid lipofuscinosis 111 test
Neuronal ceroid lipofuscinosis 131 test
Neuronal ceroid lipofuscinosis 22 tests
Neuronal ceroid lipofuscinosis 33 tests
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 72 tests
Neuronal ceroid lipofuscinosis 81 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
Neuronopathy, distal hereditary motor, type 5A3 tests
Neuropathy, hereditary sensory and autonomic, type 2A1 test
Neutral 1 amino acid transport defect1 test
Neutral lipid storage myopathy1 test
Neutropenia, severe congenital, 1, autosomal dominant3 tests
Neutropenia, severe congenital, 2, autosomal dominant2 tests
Neutrophil immunodeficiency syndrome1 test
Niemann-Pick disease, type A2 tests
Niemann-Pick disease, type B2 tests
Niemann-Pick disease, type C12 tests
Niemann-Pick disease, type C22 tests
Nijmegen breakage syndrome-like disorder1 test
Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
Non-Hodgkin lymphoma1 test
Non-ketotic hyperglycinemia4 tests
Nonimmune chronic idiopathic neutropenia of adults1 test
Nonpapillary renal cell carcinoma1 test
Nonpersistence of intestinal lactase1 test
Noonan syndrome 12 tests
Noonan syndrome 33 tests
Noonan syndrome 41 test
Noonan syndrome 52 tests
Noonan syndrome 61 test
Noonan syndrome 72 tests
Noonan syndrome 81 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Norman-Roberts syndrome1 test
NPHP3-related Meckel-like syndrome1 test
Nystagmus 6, congenital, X-linked1 test
Obesity1 test
Occult macular dystrophy1 test
Ocular albinism with congenital sensorineural hearing loss2 tests
Ocular albinism, type I2 tests
Ocular cystinosis1 test
Oculocutaneous albinism type 1B2 tests
Oculocutaneous albinism type 32 tests
Oculocutaneous albinism type 41 test
Oculocutaneous albinism type 71 test
Oculofaciocardiodental syndrome1 test
Oculopharyngeal muscular dystrophy1 test
Odonto-onycho-dermal dysplasia1 test
Oligodontia-cancer predisposition syndrome1 test
Optic atrophy 31 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Ornithine carbamoyltransferase deficiency4 tests
Orofacial cleft 51 test
Orofaciodigital syndrome type 61 test
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 111 test
Osteogenesis imperfecta type 131 test
Osteogenesis imperfecta type 51 test
Osteogenesis imperfecta type 61 test
Osteogenesis imperfecta type 72 tests
Osteogenesis imperfecta type 81 test
Osteogenesis imperfecta type 91 test
Osteogenesis imperfecta type I3 tests
Osteogenesis imperfecta type III4 tests
Osteogenesis imperfecta with normal sclerae, dominant form4 tests
Osteogenesis imperfecta, recessive perinatal lethal4 tests
Osteopetrosis with renal tubular acidosis1 test
Osteoporosis with pseudoglioma1 test
Oto-palato-digital syndrome, type I1 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant2 tests
Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
Ovarian dysgenesis 21 test
Pallister-Hall syndrome3 tests
Pancreatic agenesis 21 test
Pancreatic cancer, susceptibility to, 22 tests
Pancreatic cancer, susceptibility to, 31 test
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1 test
Pancreatic insufficiency-anemia-hyperostosis syndrome1 test
Panhypopituitarism, X-linked1 test
Papillary renal cell carcinoma type 11 test
Paragangliomas 14 tests
Paragangliomas 24 tests
Paragangliomas 34 tests
Paragangliomas 43 tests
Paragangliomas 52 tests
Paramyotonia congenita of Von Eulenburg5 tests
Parastremmatic dwarfism1 test
Parathyroid carcinoma3 tests
Parkes Weber syndrome1 test
Parkinson disease 171 test
Parkinsonian-pyramidal syndrome1 test
Paroxysmal nonkinesigenic dyskinesia 11 test
Patterned macular dystrophy 13 tests
Peeling skin syndrome 11 test
Pelizaeus-Merzbacher disease5 tests
Pendred syndrome6 tests
Periodic hyperkalemic paralysis7 tests
Permanent neonatal diabetes mellitus3 tests
Peroxisome biogenesis disorder 10A (Zellweger)1 test
Peroxisome biogenesis disorder 11A (Zellweger)1 test
Peroxisome biogenesis disorder 11B2 tests
Peroxisome biogenesis disorder 12A (Zellweger)1 test
Peroxisome biogenesis disorder 13A (Zellweger)1 test
Peroxisome biogenesis disorder 14B2 tests
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorder 1B2 tests
Peroxisome biogenesis disorder 2A (Zellweger)1 test
Peroxisome biogenesis disorder 2B2 tests
Peroxisome biogenesis disorder 3A (Zellweger)1 test
Peroxisome biogenesis disorder 4A (Zellweger)1 test
Peroxisome biogenesis disorder 4B2 tests
Peroxisome biogenesis disorder 5A (Zellweger)1 test
Peroxisome biogenesis disorder 5B2 tests
Peroxisome biogenesis disorder 6A (Zellweger)1 test
Peroxisome biogenesis disorder 6B2 tests
Peroxisome biogenesis disorder 7A (Zellweger)1 test
Peroxisome biogenesis disorder 7B2 tests
Peroxisome biogenesis disorder 8A (Zellweger)1 test
Peroxisome biogenesis disorder 8B2 tests
Peroxisome biogenesis disorder 9B1 test
Peroxisome biogenesis disorder type 3B2 tests
Perrault syndrome 12 tests
Perrault syndrome 21 test
Perrault syndrome 31 test
Perrault syndrome 41 test
Peters plus syndrome3 tests
Pettigrew syndrome1 test
Peutz-Jeghers syndrome2 tests
Pfeiffer syndrome5 tests
PGM1-congenital disorder of glycosylation3 tests
PHARC syndrome1 test
Phelan-McDermid syndrome2 tests
Phenylketonuria3 tests
Pheochromocytoma3 tests
Phosphate transport defect1 test
Phytanic acid storage disease2 tests
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1 test
Pigmentary pallidal degeneration3 tests
Pigmentary retinal dystrophy6 tests
Pigmented nodular adrenocortical disease, primary, 11 test
Pigmented nodular adrenocortical disease, primary, 21 test
Pigmented nodular adrenocortical disease, primary, 31 test
Pilomatrixoma4 tests
Pitt-Hopkins syndrome2 tests
Pituitary hormone deficiency, combined, 12 tests
Pituitary hormone deficiency, combined, 22 tests
Pituitary hormone deficiency, combined, 61 test
PLIN1-related familial partial lipodystrophy1 test
PMM2-congenital disorder of glycosylation3 tests
Polycystic kidney disease 23 tests
Polycystic kidney disease, adult type3 tests
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
Polycystic liver disease 12 tests
Polyglandular autoimmune syndrome, type 11 test
Polyposis syndrome, hereditary mixed, 21 test
Porphobilinogen synthase deficiency1 test
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1 test
Posterior column ataxia-retinitis pigmentosa syndrome2 tests
Posterior polymorphous corneal dystrophy 11 test
Posterior polymorphous corneal dystrophy 22 tests
Posterior polymorphous corneal dystrophy 31 test
Postmenopausal osteoporosis2 tests
Potassium-aggravated myotonia2 tests
PPARG-related familial partial lipodystrophy1 test
Prader-Willi syndrome3 tests
Pretibial blistering1 test
Primary ciliary dyskinesia 111 test
Primary ciliary dyskinesia 121 test
Primary ciliary dyskinesia 131 test
Primary ciliary dyskinesia 141 test
Primary ciliary dyskinesia 151 test
Primary ciliary dyskinesia 161 test
Primary ciliary dyskinesia 171 test
Primary ciliary dyskinesia 181 test
Primary ciliary dyskinesia 191 test
Primary ciliary dyskinesia 21 test
Primary ciliary dyskinesia 201 test
Primary ciliary dyskinesia 32 tests
Primary ciliary dyskinesia 51 test
Primary ciliary dyskinesia 61 test
Primary ciliary dyskinesia 71 test
Primary ciliary dyskinesia 91 test
Primary erythromelalgia1 test
Primary failure of tooth eruption1 test
Primary familial polycythemia due to EPO receptor mutation1 test
Primary hyperoxaluria type 31 test
Primary hyperoxaluria, type I2 tests
Primary hyperoxaluria, type II1 test
Primary hypomagnesemia1 test
Primary myelofibrosis3 tests
Primary open angle glaucoma2 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 13 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 51 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12 tests
Progressive familial heart block type IB1 test
Progressive familial intrahepatic cholestasis type 11 test
Progressive familial intrahepatic cholestasis type 22 tests
Progressive familial intrahepatic cholestasis type 33 tests
Progressive myoclonic epilepsy type 31 test
Progressive myositis ossificans1 test
Progressive pseudorheumatoid dysplasia2 tests
Progressive sclerosing poliodystrophy3 tests
Prolactin-producing pituitary gland adenoma2 tests
Properdin deficiency, X-linked1 test
Propionic acidemia1 test
Proteus syndrome2 tests
Protoporphyria, erythropoietic, 12 tests
Prune belly syndrome1 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome3 tests
Pseudoexfoliation glaucoma2 tests
Pseudohyperaldosteronism type 21 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Pseudohypoparathyroidism2 tests
Pseudohypoparathyroidism type 1C1 test
Pseudopseudohypoparathyroidism1 test
Pseudoxanthoma elasticum3 tests
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 11 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 21 test
Pulmonary hypertension, primary, 13 tests
Pulmonary hypertension, primary, 21 test
Pulmonary hypertension, primary, 31 test
Pulmonary hypertension, primary, 41 test
Pyknodysostosis1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2 tests
Pyridoxine-dependent epilepsy3 tests
Pyropoikilocytosis, hereditary1 test
Pyruvate dehydrogenase complex deficiency1 test
Pyruvate dehydrogenase E1-alpha deficiency2 tests
Pyruvate dehydrogenase E1-beta deficiency1 test
Pyruvate dehydrogenase E3 deficiency4 tests
Pyruvate dehydrogenase E3-binding protein deficiency1 test
Pyruvate dehydrogenase phosphatase deficiency1 test
Pyruvate kinase deficiency of red cells1 test
RAB23-related Carpenter syndrome1 test
Rabson-Mendenhall syndrome1 test
Rafiq syndrome1 test
Rapadilino syndrome1 test
Rapp-Hodgkin ectodermal dysplasia syndrome1 test
Recessive dystrophic epidermolysis bullosa1 test
Renal carnitine transport defect1 test
Renal cysts and diabetes syndrome3 tests
Renal hypodysplasia/aplasia 12 tests
Renal hypomagnesemia 21 test
Renal hypomagnesemia 5 with ocular involvement2 tests
Renal tubular acidosis with progressive nerve deafness2 tests
Renal tubular acidosis, distal, 4, with hemolytic anemia2 tests
Renpenning syndrome2 tests
Retinal cone dystrophy 3A2 tests
Retinal cone dystrophy 41 test
Retinal macular dystrophy type 21 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
Retinitis pigmentosa 12 tests
Retinitis pigmentosa 102 tests
Retinitis pigmentosa 112 tests
Retinitis pigmentosa 122 tests
Retinitis pigmentosa 132 tests
Retinitis pigmentosa 141 test
Retinitis pigmentosa 173 tests
Retinitis pigmentosa 182 tests
Retinitis pigmentosa 193 tests
Retinitis pigmentosa 23 tests
Retinitis pigmentosa 203 tests
Retinitis pigmentosa 252 tests
Retinitis pigmentosa 263 tests
Retinitis pigmentosa 272 tests
Retinitis pigmentosa 282 tests
Retinitis pigmentosa 32 tests
Retinitis pigmentosa 302 tests
Retinitis pigmentosa 312 tests
Retinitis pigmentosa 332 tests
Retinitis pigmentosa 352 tests
Retinitis pigmentosa 361 test
Retinitis pigmentosa 372 tests
Retinitis pigmentosa 381 test
Retinitis pigmentosa 391 test
Retinitis pigmentosa 43 tests
Retinitis pigmentosa 401 test
Retinitis pigmentosa 411 test
Retinitis pigmentosa 422 tests
Retinitis pigmentosa 431 test
Retinitis pigmentosa 442 tests
Retinitis pigmentosa 452 tests
Retinitis pigmentosa 462 tests
Retinitis pigmentosa 471 test
Retinitis pigmentosa 482 tests
Retinitis pigmentosa 492 tests
Retinitis pigmentosa 503 tests
Retinitis pigmentosa 511 test
Retinitis pigmentosa 542 tests
Retinitis pigmentosa 561 test
Retinitis pigmentosa 571 test
Retinitis pigmentosa 581 test
Retinitis pigmentosa 593 tests
Retinitis pigmentosa 602 tests
Retinitis pigmentosa 621 test
Retinitis pigmentosa 661 test
Retinitis pigmentosa 72 tests
Retinitis pigmentosa 92 tests
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness2 tests
Retinoblastoma3 tests
Rett syndrome3 tests
Rett syndrome, congenital variant2 tests
RFT1-congenital disorder of glycosylation3 tests
Rhabdoid tumor predisposition syndrome 12 tests
Rhizomelic chondrodysplasia punctata type 11 test
Rhizomelic chondrodysplasia punctata type 21 test
Rhizomelic chondrodysplasia punctata type 31 test
Rippling muscle disease 25 tests
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked2 tests
Rothmund-Thomson syndrome2 tests
Rubinstein-Taybi syndrome due to CREBBP mutations2 tests
Saethre-Chotzen syndrome2 tests
Sandhoff disease1 test
Sarcotubular myopathy4 tests
Scapuloperoneal spinal muscular atrophy1 test
SchC6pf-Schulz-Passarge syndrome1 test
Schimke immuno-osseous dysplasia1 test
Schneckenbecken dysplasia2 tests
Schwannomatosis 11 test
Schwartz-Jampel syndrome2 tests
Seckel syndrome 13 tests
Seckel syndrome 41 test
Seckel syndrome 61 test
Seizures, benign familial infantile, 33 tests
Seizures, benign familial neonatal, 14 tests
Seizures, benign familial neonatal, 22 tests
Seizures-scoliosis-macrocephaly syndrome1 test
Selective pituitary resistance to thyroid hormone1 test
Senior-Loken syndrome 52 tests
Senior-Loken syndrome 81 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2 tests
Septo-optic dysplasia sequence3 tests
Severe early-childhood-onset retinal dystrophy3 tests
Severe myoclonic epilepsy in infancy1 test
Severe neonatal-onset encephalopathy with microcephaly2 tests
Severe X-linked myotubular myopathy3 tests
Short QT syndrome type 11 test
Short QT syndrome type 21 test
Short QT syndrome type 31 test
Short stature-pituitary and cerebellar defects-small sella turcica syndrome2 tests
Shprintzen-Goldberg syndrome1 test
Shwachman-Diamond syndrome 13 tests
Sialuria1 test
Silver-Russell syndrome 11 test
Simpson-Golabi-Behmel syndrome type 13 tests
Sitosterolemia1 test
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome1 test
SLC35A1-congenital disorder of glycosylation1 test
Slow acetylator due to N-acetyltransferase enzyme variant1 test
Small cell lung carcinoma1 test
Smith-Lemli-Opitz syndrome1 test
Smith-Magenis syndrome1 test
Solitary median maxillary central incisor1 test
Somatotroph adenoma2 tests
Sotos syndrome3 tests
Southeast Asian ovalocytosis1 test
Spastic ataxia 41 test
Spastic ataxia 52 tests
Spermatogenic failure, Y-linked, 21 test
Sphingolipid activator protein 1 deficiency2 tests
Spinal muscular atrophy, type II2 tests
Spinal muscular atrophy, type IV1 test
Spinocerebellar ataxia 75 tests
Spinocerebellar ataxia type 14 tests
Spinocerebellar ataxia type 103 tests
Spinocerebellar ataxia type 113 tests
Spinocerebellar ataxia type 122 tests
Spinocerebellar ataxia type 133 tests
Spinocerebellar ataxia type 144 tests
Spinocerebellar ataxia type 15/162 tests
Spinocerebellar ataxia type 173 tests
Spinocerebellar ataxia type 181 test
Spinocerebellar ataxia type 19/222 tests
Spinocerebellar ataxia type 25 tests
Spinocerebellar ataxia type 232 tests
Spinocerebellar ataxia type 273 tests
Spinocerebellar ataxia type 282 tests
Spinocerebellar ataxia type 292 tests
Spinocerebellar ataxia type 352 tests
Spinocerebellar ataxia type 362 tests
Spinocerebellar ataxia type 41 test
Spinocerebellar ataxia type 54 tests
Spinocerebellar ataxia type 65 tests
Spinocerebellar ataxia type 83 tests
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 23 tests
Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
Spondylocarpotarsal synostosis syndrome1 test
Spondylocostal dysostosis 1, autosomal recessive3 tests
Spondylocostal dysostosis 2, autosomal recessive2 tests
Spondylocostal dysostosis 3, autosomal recessive2 tests
Spondylocostal dysostosis 4, autosomal recessive2 tests
Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
Spondyloepimetaphyseal dysplasia, matrilin-3 type1 test
Spondyloepimetaphyseal dysplasia, Missouri type1 test
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome1 test
Spondyloepiphyseal dysplasia tarda1 test
Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness1 test
Spondylometaphyseal dysplasia, Kozlowski type3 tests
Spongy degeneration of central nervous system1 test
SRD5A3-congenital disorder of glycosylation1 test
Stargardt disease 32 tests
Stargardt disease 41 test
Steinert myotonic dystrophy syndrome2 tests
Sterol carrier protein 2 deficiency2 tests
Stickler syndrome type 14 tests
Stickler syndrome type 22 tests
Stickler syndrome, type 42 tests
Stickler syndrome, type 52 tests
Stickler syndrome, type I, nonsyndromic ocular1 test
Stiff skin syndrome1 test
Sturge-Weber syndrome1 test
Stuve-Wiedemann syndrome1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Succinyl-CoA acetoacetate transferase deficiency1 test
Sulfite oxidase deficiency1 test
Supravalvar aortic stenosis2 tests
Surfactant metabolism dysfunction, pulmonary, 22 tests
Surfactant metabolism dysfunction, pulmonary, 41 test
Surfactant metabolism dysfunction, pulmonary, 51 test
Syndromic microphthalmia type 51 test
Syndromic X-linked intellectual disability 141 test
Syndromic X-linked intellectual disability Claes-Jensen type1 test
Syndromic X-linked intellectual disability Lubs type3 tests
Syndromic X-linked intellectual disability Najm type2 tests
T-B+ severe combined immunodeficiency due to JAK3 deficiency1 test
Tay-Sachs disease2 tests
Telangiectasia, hereditary hemorrhagic, type 15 tests
Telangiectasia, hereditary hemorrhagic, type 24 tests
Telangiectasia, hereditary hemorrhagic, type 51 test
Temtamy preaxial brachydactyly syndrome1 test
Thanatophoric dysplasia type 12 tests
Thanatophoric dysplasia, type 22 tests
Thiopurine methyltransferase deficiency1 test
Thrombocythemia 11 test
Thrombocythemia 22 tests
Thrombocythemia 31 test
Thrombocytopenia 41 test
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
Thrombophilia due to protein C deficiency, autosomal dominant2 tests
Thrombophilia due to protein C deficiency, autosomal recessive2 tests
Thyroglobulin synthesis defect2 tests
Thyroid dyshormonogenesis 62 tests
Thyroid hormone metabolism, abnormal 11 test
Thyroid hormone resistance, generalized, autosomal dominant4 tests
Thyroid hormone resistance, generalized, autosomal recessive3 tests
Thyrotoxic periodic paralysis, susceptibility to, 22 tests
Tietz syndrome1 test
Timothy syndrome1 test
TMEM165-congenital disorder of glycosylation1 test
TNF receptor-associated periodic fever syndrome (TRAPS)3 tests
Tooth agenesis, selective, 31 test
Torsion dystonia 62 tests
Townes-Brocks syndrome 11 test
Transient bullous dermolysis of the newborn1 test
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Trichothiodystrophy 1, photosensitive2 tests
Trichothiodystrophy 2, photosensitive2 tests
Trichothiodystrophy 3, photosensitive1 test
Trichothiodystrophy 4, nonphotosensitive1 test
Trichothiodystrophy 5, nonphotosensitive1 test
Triglyceride storage disease with ichthyosis1 test
Trigonocephaly 21 test
Trimethylaminuria2 tests
Troyer syndrome1 test
Tuberous sclerosis 111 tests
Tuberous sclerosis 22 tests
Tumoral calcinosis, hyperphosphatemic, familial, 12 tests
Turcot syndrome7 tests
TWIST1-related craniosynostosis1 test
Type 1 diabetes mellitus 21 test
Type II diabetes mellitus4 tests
Tyrosinase-negative oculocutaneous albinism2 tests
Tyrosinase-positive oculocutaneous albinism3 tests
Tyrosinemia type I1 test
UDPglucose-4-epimerase deficiency1 test
Ullrich congenital muscular dystrophy 11 test
Upshaw-Schulman syndrome1 test
Usher syndrome type 12 tests
Usher syndrome type 1C2 tests
Usher syndrome type 1D3 tests
Usher syndrome type 1F3 tests
Usher syndrome type 1G1 test
Usher syndrome type 1J2 tests
Usher syndrome type 2A3 tests
Usher syndrome type 2C1 test
Usher syndrome type 2D2 tests
Usher syndrome type 32 tests
VACTERL association, X-linked, with or without hydrocephalus1 test
Van der Woude syndrome 11 test
Vanishing white matter disease4 tests
Variegate porphyria1 test
VATER association1 test
Velocardiofacial syndrome1 test
Ventricular fibrillation, paroxysmal familial, type 11 test
Very long chain acyl-CoA dehydrogenase deficiency2 tests
Visceral myopathy 11 test
Vitamin D-dependent rickets, type 11 test
Vitelliform macular dystrophy 22 tests
Von Hippel-Lindau syndrome3 tests
von Willebrand disease type 11 test
von Willebrand disease type 21 test
von Willebrand disease type 31 test
Waardenburg syndrome type 13 tests
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 2E2 tests
Waardenburg syndrome type 31 test
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C1 test
Wagner syndrome2 tests
Warburg micro syndrome 12 tests
Weaver syndrome2 tests
Weill-Marchesani syndrome 12 tests
Weill-Marchesani syndrome 2, dominant1 test
Werdnig-Hoffmann disease2 tests
Werner syndrome1 test
Williams syndrome3 tests
Wilms tumor 12 tests
Wilson disease3 tests
Wiskott-Aldrich syndrome1 test
Wolcott-Rallison dysplasia1 test
Wolff-Parkinson-White pattern2 tests
Wolfram syndrome 13 tests
Wolfram syndrome 21 test
Wolfram-like syndrome1 test
Woodhouse-Sakati syndrome2 tests
Wrinkly skin syndrome1 test
X-linked agammaglobulinemia2 tests
X-linked Alport syndrome3 tests
X-linked chondrodysplasia punctata 12 tests
X-linked cone-rod dystrophy 13 tests
X-linked cone-rod dystrophy 32 tests
X-linked dystonia-parkinsonism2 tests
X-linked Emery-Dreifuss muscular dystrophy1 test
X-linked hydrocephalus syndrome3 tests
X-linked ichthyosis with steryl-sulfatase deficiency2 tests
X-linked intellectual disability, Stocco dos Santos type1 test
X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
X-linked intellectual disability-psychosis-macroorchidism syndrome1 test
X-linked lissencephaly with abnormal genitalia3 tests
X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
X-linked mixed hearing loss with perilymphatic gusher1 test
X-linked myopathy with postural muscle atrophy1 test
X-linked Opitz G/BBB syndrome1 test
X-linked progressive cerebellar ataxia1 test
X-linked severe combined immunodeficiency1 test
X-linked severe congenital neutropenia1 test
X-linked sideroblastic anemia 11 test
Xeroderma pigmentosum group A1 test
Xeroderma pigmentosum group B2 tests
Xeroderma pigmentosum variant type1 test
Xeroderma pigmentosum, group C1 test
Xeroderma pigmentosum, group D2 tests
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
Carrier testing
Genetic counseling
Identity Testing
Mutation Confirmation
Result interpretation
Uniparental Disomy (UPD) Testing

Participation in external programs

Standardization programs

Other

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.