Laboratorio de Genetica Clinica SL

Personnel

Director: Jorge Puente, PhD, Lab Director
Phone: 0034916592298
Fax: 0034916592299
Email: [email protected]
Director: Angela Sesto, PhD, Scientific Director
Phone: +34916592298
Fax: +34916592299
Email: [email protected]

Conditions and tests

1906 conditions/phenotypes with 1551 tests
Enter text to narrow down the list

11p partial monosomy syndrome1 test
3 beta-Hydroxysteroid dehydrogenase deficiency1 test
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
3-Methylglutaconic aciduria type 21 test
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
3M syndrome 11 test
3M syndrome 21 test
46,XX sex reversal 11 test
46,XY sex reversal 11 test
46,XY sex reversal 31 test
7q11.23 microduplication syndrome1 test
Aarskog syndrome1 test
Abdominal situs inversus1 test
Abetalipoproteinaemia3 tests
Achondrogenesis type II1 test
Achondrogenesis, type IB1 test
Achondroplasia1 test
Achromatopsia 21 test
Achromatopsia 31 test
Achromatopsia 41 test
Achromatopsia 71 test
Acquired partial lipodystrophy1 test
Acquired polycythemia vera1 test
Acral peeling skin syndrome1 test
Acro-dermato-ungual-lacrimal-tooth (adult) syndrome1 test
Acrocephalosyndactyly type I1 test
Acroerythrokeratoderma1 test
Acrokeratosis verruciformis of Hopf1 test
Acromesomelic dysplasia 1, Maroteaux type1 test
Actin accumulation myopathy1 test
Action myoclonus-renal failure syndrome1 test
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
Acute intermittent porphyria1 test
Acute myeloid leukemia3 tests
Adams-Oliver syndrome 11 test
Adams-Oliver syndrome 21 test
Adams-Oliver syndrome 31 test
Adams-Oliver syndrome 41 test
Adams-Oliver syndrome 51 test
Adams-Oliver syndrome 61 test
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2 tests
Adrenocortical carcinoma, hereditary1 test
Adrenoleukodystrophy1 test
Adult-onset autosomal dominant demyelinating leukodystrophy1 test
Adult-onset foveomacular vitelliform dystrophy1 test
Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
Aganglionic megacolon1 test
Agenesis of the corpus callosum with peripheral neuropathy1 test
Aicardi-Goutieres syndrome 11 test
Aicardi-Goutieres syndrome 21 test
Aicardi-Goutieres syndrome 31 test
Aicardi-Goutieres syndrome 41 test
Aicardi-Goutieres syndrome 51 test
Aicardi-Goutieres syndrome 61 test
Aicardi-Goutieres syndrome 71 test
Alagille syndrome due to a JAG1 point mutation1 test
Alagille syndrome due to a NOTCH2 point mutation1 test
Aland island eye disease1 test
Alexander disease1 test
ALG3-congenital disorder of glycosylation1 test
ALG6-congenital disorder of glycosylation 1C1 test
Alkaptonuria1 test
Allan-Herndon-Dudley syndrome1 test
alpha Thalassemia1 test
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alpha-1-antitrypsin deficiency1 test
Alport syndrome1 test
Alstrom syndrome1 test
Alternating hemiplegia of childhood 21 test
Alveolar capillary dysplasia with pulmonary venous misalignment1 test
Alzheimer disease2 tests
Alzheimer disease 21 test
Alzheimer disease 31 test
Alzheimer disease 41 test
Amyloidosis, hereditary systemic 11 test
Amyloidosis, primary localized cutaneous, 11 test
Amyloidosis, primary localized cutaneous, 21 test
Amyotrophic lateral sclerosis1 test
Amyotrophic lateral sclerosis type 11 test
Amyotrophic lateral sclerosis type 101 test
Amyotrophic lateral sclerosis type 111 test
Amyotrophic lateral sclerosis type 121 test
Amyotrophic lateral sclerosis type 151 test
Amyotrophic lateral sclerosis type 161 test
Amyotrophic lateral sclerosis type 181 test
Amyotrophic lateral sclerosis type 2, juvenile1 test
Amyotrophic lateral sclerosis type 41 test
Amyotrophic lateral sclerosis type 51 test
Amyotrophic lateral sclerosis type 61 test
Amyotrophic lateral sclerosis type 81 test
Amyotrophic lateral sclerosis type 91 test
Amyotrophic lateral sclerosis-parkinsonism-dementia complex1 test
Amyotrophic neuralgia1 test
Andersen Tawil syndrome2 tests
Androgen resistance syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome2 tests
Angioosteohypertrophic syndrome1 test
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome1 test
Aniridia 11 test
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome2 tests
Annular epidermolytic ichthyosis1 test
Anophthalmia-microphthalmia syndrome1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Apparent mineralocorticoid excess1 test
Aqueductal stenosis, X-linked, Hydrocephalus due to congenital stenosis of aqueduct of sylvius, X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius, X-linked hydrocephalus1 test
Arginase deficiency2 tests
Arginine:glycine amidinotransferase deficiency1 test
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 21 test
Arrhythmogenic right ventricular dysplasia 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Arterial tortuosity syndrome1 test
Arthrogryposis multiplex congenita 2, neurogenic type1 test
Arthrogryposis, distal, type 1A1 test
Arthrogryposis, distal, type 1B1 test
Arthrogryposis, distal, with impaired proprioception and touch1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Asphyxiating thoracic dystrophy 21 test
Asphyxiating thoracic dystrophy 31 test
Asphyxiating thoracic dystrophy 41 test
Asphyxiating thoracic dystrophy 51 test
At risk of osteoporosis1 test
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1 test
Ataxia - oculomotor apraxia type 41 test
Ataxia with oculomotor apraxia type 31 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
Ataxia-telangiectasia syndrome1 test
Ataxia-telangiectasia-like disorder1 test
Ateleiotic dwarfism1 test
Atelosteogenesis type II1 test
Atrial septal defect 21 test
Atrial septal defect 81 test
Atrichia with papular lesions1 test
Atrioventricular septal defect 41 test
Atrophia bulborum hereditaria1 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 anomaly1 test
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
Autism spectrum disorder1 test
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1 test
Autoimmune lymphoproliferative syndrome type 11 test
Autoimmune lymphoproliferative syndrome type 2A1 test
Autoimmune lymphoproliferative syndrome type 2B1 test
Autoimmune lymphoproliferative syndrome type 41 test
Autosomal dominant Alport syndrome1 test
Autosomal dominant centronuclear myopathy1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
Autosomal dominant distal renal tubular acidosis1 test
Autosomal dominant hypocalcemia 11 test
Autosomal dominant hypocalcemia 21 test
Autosomal dominant hypophosphatemic rickets2 tests
Autosomal dominant isolated somatotropin deficiency1 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
Autosomal dominant limb-girdle muscular dystrophy type 1F1 test
Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
Autosomal dominant nocturnal frontal lobe epilepsy1 test
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 41 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 131 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 201 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant nonsyndromic hearing loss 3B1 test
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant osteopetrosis 21 test
Autosomal dominant Parkinson disease 81 test
Autosomal dominant polycystic kidney disease1 test
Autosomal dominant polycystic liver disease1 test
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal dominant Robinow syndrome 11 test
Autosomal hypohidrotic ectodermal dysplasia1 test
Autosomal recessive Alport syndrome1 test
Autosomal recessive ataxia due to ubiquinone deficiency1 test
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive axonal neuropathy with neuromyotonia1 test
Autosomal recessive congenital ichthyosis 11 test
Autosomal recessive congenital ichthyosis 21 test
Autosomal recessive congenital ichthyosis 31 test
Autosomal recessive congenital ichthyosis 4A1 test
Autosomal recessive congenital ichthyosis 51 test
Autosomal recessive congenital ichthyosis 61 test
Autosomal recessive cutis laxa type 2B1 test
Autosomal recessive distal renal tubular acidosis1 test
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive DOPA responsive dystonia1 test
Autosomal recessive early-onset Parkinson disease 61 test
Autosomal recessive early-onset Parkinson disease 71 test
Autosomal recessive hypophosphatemic bone disease2 tests
Autosomal recessive inherited pseudoxanthoma elasticum1 test
Autosomal recessive juvenile Parkinson disease 21 test
Autosomal recessive Kenny-Caffey syndrome1 test
Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
Autosomal recessive limb-girdle muscular dystrophy type 2C1 test
Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive limb-girdle muscular dystrophy type 2I1 test
Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
Autosomal recessive limb-girdle muscular dystrophy type 2L1 test
Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
Autosomal recessive limb-girdle muscular dystrophy type 2P1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
Autosomal recessive limb-girdle muscular dystrophy type 2T1 test
Autosomal recessive nonsyndromic hearing loss 121 test
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 18A1 test
Autosomal recessive nonsyndromic hearing loss 1A1 test
Autosomal recessive nonsyndromic hearing loss 21 test
Autosomal recessive nonsyndromic hearing loss 231 test
Autosomal recessive nonsyndromic hearing loss 31 test
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive nonsyndromic hearing loss 591 test
Autosomal recessive nonsyndromic hearing loss 71 test
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive nonsyndromic hearing loss 84B1 test
Autosomal recessive nonsyndromic hearing loss 92 tests
Autosomal recessive optic atrophy, OPA7 type1 test
Autosomal recessive osteopetrosis 11 test
Autosomal recessive osteopetrosis 21 test
Autosomal recessive osteopetrosis 41 test
Autosomal recessive osteopetrosis 51 test
Autosomal recessive osteopetrosis 61 test
Autosomal recessive osteopetrosis 71 test
Autosomal recessive osteopetrosis 81 test
Autosomal recessive polycystic kidney disease1 test
Autosomal recessive primary microcephaly2 tests
Autosomal recessive proximal renal tubular acidosis1 test
Autosomal recessive Robinow syndrome1 test
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1 test
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1 test
Autosomal recessive spondylocostal dysostosis1 test
Avellino corneal dystrophy1 test
Axenfeld-Rieger syndrome type 11 test
Axenfeld-Rieger syndrome type 31 test
Azorean disease1 test
Baller-Gerold syndrome1 test
Bannayan-Riley-Ruvalcaba syndrome1 test
Baraitser-winter syndrome 22 tests
Bardet-Biedl syndrome2 tests
Bardet-Biedl syndrome 102 tests
Bardet-Biedl syndrome 112 tests
Bardet-Biedl syndrome 122 tests
Bardet-Biedl syndrome 132 tests
Bardet-Biedl syndrome 142 tests
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 161 test
Bardet-Biedl syndrome 171 test
Bardet-Biedl syndrome 181 test
Bardet-Biedl syndrome 191 test
Bardet-Biedl syndrome 22 tests
Bardet-Biedl syndrome 42 tests
Bardet-Biedl syndrome 52 tests
Bardet-Biedl syndrome 72 tests
Bardet-Biedl syndrome 82 tests
Bardet-Biedl syndrome 92 tests
Bartsocas-Papas syndrome 11 test
Bartter disease type 11 test
Bartter disease type 21 test
Bartter disease type 31 test
Bartter disease type 4A1 test
Basal ganglia calcification, idiopathic, 41 test
Basal ganglia calcification, idiopathic, 51 test
Basal ganglia calcification, idiopathic, 61 test
Batten-Turner congenital myopathy1 test
Beckwith-Wiedemann syndrome1 test
Benign hereditary chorea1 test
Bernard Soulier syndrome1 test
Bernard-Soulier syndrome, type A2, autosomal dominant1 test
beta Thalassemia1 test
Beta-D-mannosidosis1 test
Bethlem myopathy 1A1 test
Bilateral frontoparietal polymicrogyria1 test
Biotinidase deficiency2 tests
Birk-Barel syndrome1 test
Birt-Hogg-Dube syndrome1 test
Blau syndrome1 test
Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
Blepharophimosis, ptosis, and epicanthus inversus syndrome1 test
Bloom syndrome1 test
Bone osteosarcoma1 test
Borjeson-Forssman-Lehmann syndrome1 test
Brachydactyly type A11 test
Brachydactyly type A1C1 test
Brachydactyly type B11 test
Brachydactyly type B21 test
Brachydactyly type C1 test
Brachydactyly type D1 test
Brachydactyly type E11 test
Brachydactyly type E22 tests
Branchiooculofacial syndrome1 test
Branchiootic syndrome 31 test
Branchiootorenal syndrome 11 test
Branchiootorenal syndrome 21 test
Breast-ovarian cancer, familial, susceptibility to, 11 test
Breast-ovarian cancer, familial, susceptibility to, 21 test
Breast-ovarian cancer, familial, susceptibility to, 31 test
Brittle cornea syndrome 11 test
Brittle cornea syndrome 21 test
Brown-Vialetto-van Laere syndrome 11 test
Brown-Vialetto-van Laere syndrome 21 test
Bruck syndrome 11 test
Bruck syndrome 21 test
Brugada 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
Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type1 test
C3 deficiency1 test
Camptomelic dysplasia1 test
Capillary malformation without arteriovenous malformation1 test
Capillary malformation-arteriovenous malformation 11 test
Capillary malformation-arteriovenous malformation 21 test
Capillary malformation-arteriovenous malformation syndrome1 test
CARASIL syndrome1 test
Carcinoma of pancreas1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 12 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21 test
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 32 tests
Cardiofaciocutaneous syndrome 41 test
Carney complex, type 11 test
Carney-Stratakis syndrome1 test
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyl transferase II deficiency, myopathic form1 test
Carnitine palmitoyl transferase II deficiency, neonatal form1 test
Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
Catecholaminergic polymorphic ventricular tachycardia 11 test
Catecholaminergic polymorphic ventricular tachycardia 21 test
CBL-related disorder1 test
Central core myopathy1 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 31 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41 test
Cerebellar hemangioblastoma1 test
Cerebral amyloid angiopathy, APP-related1 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Cerebral cavernous malformation1 test
Cerebro-costo-mandibular syndrome1 test
Cernunnos-XLF deficiency1 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
Ceroid lipofuscinosis, neuronal, 6A1 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 2K1 test
Charcot-Marie-Tooth disease axonal type 2L1 test
Charcot-Marie-Tooth disease axonal type 2T1 test
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1D2 tests
Charcot-Marie-Tooth disease type 1E1 test
Charcot-Marie-Tooth disease type 1F1 test
Charcot-Marie-Tooth disease type 2A11 test
Charcot-Marie-Tooth disease type 2A21 test
Charcot-Marie-Tooth disease type 2B1 test
Charcot-Marie-Tooth disease type 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 4A1 test
Charcot-Marie-Tooth disease type 4B11 test
Charcot-Marie-Tooth disease type 4B21 test
Charcot-Marie-Tooth disease type 4B31 test
Charcot-Marie-Tooth disease type 4C1 test
Charcot-Marie-Tooth disease type 4D1 test
Charcot-Marie-Tooth disease type 4E1 test
Charcot-Marie-Tooth disease type 4F1 test
Charcot-Marie-Tooth disease type 4H1 test
Charcot-Marie-Tooth disease type 4J1 test
Charcot-Marie-Tooth disease X-linked dominant 11 test
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1 test
Charcot-Marie-Tooth disease, type IA1 test
Charcot-Marie-Tooth Neuropathy X1 test
CHARGE syndrome1 test
Charlevoix-Saguenay spastic ataxia1 test
Child syndrome1 test
Childhood epilepsy with centrotemporal spikes1 test
Childhood hypophosphatasia1 test
Chitotriosidase deficiency1 test
Cholestanol storage disease1 test
Cholestasis, progressive familial intrahepatic, 41 test
Chondrodysplasia punctata 2 X-linked dominant1 test
Chorea-acanthocytosis2 tests
Choroideremia1 test
Christianson syndrome1 test
Chromosome 2q32-q33 deletion syndrome1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic mucocutaneous candidiasis1 test
Chronic myelogenous leukemia, BCR-ABL1 positive1 test
Chédiak-Higashi syndrome1 test
Citrullinemia type I2 tests
Citrullinemia type II1 test
CK syndrome1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Classic dopamine transporter deficiency syndrome1 test
Classic homocystinuria1 test
Cleft lip/palate-ectodermal dysplasia syndrome1 test
Cleidocranial dysostosis1 test
Coats plus syndrome1 test
Cobalamin C disease1 test
Cockayne syndrome1 test
Cockayne syndrome type 11 test
Cockayne syndrome type 21 test
Coffin-Lowry syndrome1 test
COG1 congenital disorder of glycosylation1 test
Cohen syndrome1 test
Cold-induced sweating syndrome 12 tests
Cold-induced sweating syndrome 22 tests
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1 test
Colorectal cancer1 test
Colorectal cancer, hereditary nonpolyposis, type 21 test
Colorectal cancer, hereditary nonpolyposis, type 71 test
Combined immunodeficiency1 test
Combined immunodeficiency due to DOCK8 deficiency1 test
Combined pituitary hormone deficiencies, genetic form1 test
Complex cortical dysplasia with other brain malformations 71 test
Cone dystrophy 31 test
Cone dystrophy 41 test
Cone-rod dystrophy1 test
Cone-rod dystrophy 21 test
Cone-rod dystrophy 31 test
Cone-rod dystrophy 61 test
Cone-rod synaptic disorder, congenital nonprogressive1 test
Congenital absence of salivary gland1 test
Congenital adrenal hypoplasia, X-linked1 test
Congenital afibrinogenemia1 test
Congenital amegakaryocytic thrombocytopenia1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
Congenital cataracts-facial dysmorphism-neuropathy syndrome1 test
Congenital central hypoventilation1 test
Congenital contractural arachnodactyly1 test
Congenital diarrhea 5 with tufting enteropathy1 test
Congenital dyserythropoietic anemia type 41 test
Congenital dyserythropoietic anemia type type 1B1 test
Congenital dyserythropoietic anemia, type I1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital dyserythropoietic anemia, type III1 test
Congenital fibrosis of extraocular muscles1 test
Congenital fibrosis of extraocular muscles type 11 test
Congenital generalized lipodystrophy type 11 test
Congenital generalized lipodystrophy type 21 test
Congenital generalized lipodystrophy type 41 test
Congenital glucose-galactose malabsorption1 test
Congenital heart defects, multiple types, 61 test
Congenital hyperammonemia, type I2 tests
Congenital hypothyroidism2 tests
Congenital hypotrichosis with juvenile macular dystrophy1 test
Congenital ichthyosis of skin1 test
Congenital lactase deficiency1 test
Congenital lipoid adrenal hyperplasia due to STAR deficency1 test
Congenital microvillous atrophy1 test
Congenital multicore myopathy with external ophthalmoplegia1 test
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myasthenic syndrome1 test
Congenital myasthenic syndrome 101 test
Congenital myasthenic syndrome 111 test
Congenital myasthenic syndrome 2A1 test
Congenital myasthenic syndrome 2C1 test
Congenital myasthenic syndrome 3A1 test
Congenital myasthenic syndrome 3B1 test
Congenital myasthenic syndrome 3C1 test
Congenital myasthenic syndrome 4A1 test
Congenital myasthenic syndrome 4B1 test
Congenital myasthenic syndrome 4C1 test
Congenital myopathy with fiber type disproportion1 test
Congenital neutropenia-myelofibrosis-nephromegaly syndrome1 test
Congenital nongoitrous hypothyroidism 61 test
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Congenital secretory diarrhea, chloride type1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Congenital stationary night blindness 1A1 test
Congenital stationary night blindness 1B1 test
Congenital stationary night blindness 1C1 test
Congenital stationary night blindness 1D1 test
Congenital stationary night blindness 2A1 test
Congenital stationary night blindness autosomal dominant 11 test
Congenital stationary night blindness autosomal dominant 21 test
Congenital stationary night blindness autosomal dominant 31 test
Conotruncal heart malformations2 tests
Constitutional megaloblastic anemia with severe neurologic disease1 test
Cornelia de Lange syndrome 11 test
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
Corticosterone 18-monooxygenase deficiency2 tests
Corticosterone methyloxidase type 2 deficiency1 test
Cortisone reductase deficiency 11 test
Cortisone reductase deficiency 21 test
Costello syndrome1 test
Cowden syndrome1 test
Cowden syndrome 11 test
Cowden syndrome 51 test
Cowden syndrome 61 test
Craniodiaphyseal dysplasia, autosomal dominant1 test
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11 test
Craniofrontonasal syndrome1 test
Craniosynostosis 21 test
Creatine transporter deficiency2 tests
Crigler-Najjar syndrome1 test
Crigler-Najjar syndrome, type II1 test
Crouzon syndrome1 test
Crouzon syndrome-acanthosis nigricans syndrome1 test
Cutis laxa, autosomal dominant1 test
Cutis laxa, autosomal recessive1 test
Cutis laxa, autosomal recessive, type 1A1 test
Cutis laxa, autosomal recessive, type 1B1 test
Cutis laxa, X-linked1 test
Cyclical neutropenia2 tests
Cystic fibrosis1 test
Cystinosis1 test
Cystinuria2 tests
Dalmatian hypouricemia1 test
Danon disease1 test
Deafness dystonia syndrome1 test
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of ferroxidase1 test
Deficiency of galactokinase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of hyaluronoglucosaminidase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of iodide peroxidase1 test
Deficiency of isobutyryl-CoA dehydrogenase1 test
Deficiency of malonyl-CoA decarboxylase1 test
Deficiency of steroid 17-alpha-monooxygenase1 test
Deficiency of transaldolase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Dejerine-Sottas disease2 tests
Dent disease type 11 test
Dent disease type 21 test
Dentatorubral-pallidoluysian atrophy1 test
Dentinogenesis imperfecta type 21 test
Dentinogenesis imperfecta type 31 test
Dermatofibrosis lenticularis disseminata1 test
Desmin-related myofibrillar myopathy2 tests
Developmental and epileptic encephalopathy, 14 tests
Developmental and epileptic encephalopathy, 111 test
Developmental and epileptic encephalopathy, 22 tests
Developmental and epileptic encephalopathy, 391 test
Developmental and epileptic encephalopathy, 41 test
Developmental and epileptic encephalopathy, 51 test
Developmental and epileptic encephalopathy, 72 tests
Developmental and epileptic encephalopathy, 82 tests
Developmental and epileptic encephalopathy, 91 test
Diabetes insipidus, nephrogenic, autosomal1 test
Diabetes insipidus, nephrogenic, X-linked1 test
Diabetes insipidus, neurohypophyseal, X-linked1 test
Diabetes mellitus, transient neonatal, 21 test
Diabetes mellitus, transient neonatal, 31 test
Diamond-Blackfan anemia1 test
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 101 test
Diamond-Blackfan anemia 111 test
Diamond-Blackfan anemia 31 test
Diamond-Blackfan anemia 41 test
Diamond-Blackfan anemia 51 test
Diamond-Blackfan anemia 61 test
Diamond-Blackfan anemia 71 test
Diamond-Blackfan anemia 91 test
Diaphyseal dysplasia1 test
Diastrophic dysplasia1 test
DiGeorge syndrome1 test
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1S1 test
Disorder due cytochrome p450 CYP2D6 variant1 test
Distal arthrogryposis type 2B11 test
Distal arthrogryposis type 5D1 test
Distal myopathy with posterior leg and anterior hand involvement1 test
Distal spinal muscular atrophy1 test
Distichiasis-lymphedema syndrome1 test
Donnai-Barrow syndrome1 test
Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
Drash syndrome1 test
Duane-radial ray syndrome1 test
Dubin-Johnson syndrome1 test
Dubowitz syndrome1 test
Duchenne muscular dystrophy1 test
Dyschromatosis universalis hereditaria1 test
Dysequilibrium syndrome1 test
Dyskeratosis congenita2 tests
Dyskeratosis congenita, autosomal dominant 11 test
Dyskeratosis congenita, autosomal dominant 21 test
Dyskeratosis congenita, autosomal dominant 31 test
Dyskeratosis congenita, autosomal dominant 41 test
Dyskeratosis congenita, autosomal recessive 11 test
Dyskeratosis congenita, autosomal recessive 21 test
Dyskeratosis congenita, autosomal recessive 31 test
Dyskeratosis congenita, autosomal recessive 51 test
Dyskeratosis congenita, X-linked1 test
Dystonia 121 test
Dystonia 161 test
Dystonia 231 test
Dystonia 241 test
Dystonia 251 test
Dystonia 271 test
Dystonia 53 tests
Dystonia 91 test
Early myoclonic encephalopathy1 test
Early-onset generalized limb-onset dystonia1 test
Ectodermal dysplasia and immunodeficiency 21 test
Ectopia lentis1 test
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 11 test
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
Ehlers-Danlos syndrome progeroid type1 test
Ehlers-Danlos syndrome, arthrochalasia type1 test
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, dermatosparaxis type1 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, kyphoscoliotic type, 21 test
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, musculocontractural type 21 test
Ehlers-Danlos syndrome, spondylocheirodysplastic type1 test
Ehlers-Danlos syndrome, spondylodysplastic type, 21 test
Ehlers-Danlos syndrome, type 4 variant1 test
Eichsfeld type congenital muscular dystrophy1 test
Ellis-van Creveld syndrome1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
Encephalopathy due to GLUT1 deficiency1 test
Enchondromatosis1 test
Enhanced S-cone syndrome1 test
Epidermolysis bullosa1 test
Epidermolysis bullosa dystrophica1 test
Epidermolysis bullosa pruriginosa1 test
Epidermolysis bullosa simplex1 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 3, localized or generalized intermediate, with BP230 deficiency1 test
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
Epidermolysis bullosa simplex 5B, with muscular dystrophy1 test
Epidermolysis bullosa simplex 5C, with pyloric atresia2 tests
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss1 test
Epidermolysis bullosa simplex due to plakophilin deficiency1 test
Epidermolysis bullosa simplex with migratory circinate erythema1 test
Epidermolysis bullosa simplex with mottled pigmentation1 test
Epidermolysis bullosa simplex with nail dystrophy1 test
Epidermolysis bullosa simplex, Koebner type2 tests
Epidermolysis bullosa simplex, Ogna type1 test
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1 test
Epidermolytic ichthyosis2 tests
Epilepsy, familial temporal lobe, 12 tests
Epilepsy, idiopathic generalized, susceptibility to, 111 test
Epilepsy, idiopathic generalized, susceptibility to, 131 test
Epilepsy, idiopathic generalized, susceptibility to, 91 test
Epilepsy, progressive myoclonic, 1B1 test
Episodic ataxia type 12 tests
Episodic ataxia type 21 test
Episodic ataxia type 51 test
Episodic ataxia type 61 test
Episodic kinesigenic dyskinesia1 test
Episodic kinesigenic dyskinesia 11 test
Episodic pain syndrome, familial, 21 test
Erythrocyte AMP deaminase deficiency1 test
Erythrocytosis, familial, 31 test
Erythrocytosis, familial, 41 test
Erythrokeratodermia variabilis et progressiva 11 test
Erythrokeratodermia variabilis et progressiva 21 test
Exercise intolerance, riboflavin-responsive1 test
Exostoses, multiple, type 21 test
Exudative retinopathy1 test
Exudative vitreoretinopathy 11 test
Exudative vitreoretinopathy 2, X-linked1 test
Exudative vitreoretinopathy 41 test
Exudative vitreoretinopathy 51 test
Fabry disease1 test
Factor H deficiency1 test
Factor V deficiency1 test
Factor VII deficiency1 test
Factor XII deficiency disease2 tests
Factor XIII, A subunit, deficiency of1 test
Factor XIII, b subunit, deficiency of1 test
Familial acute necrotizing encephalopathy1 test
Familial adenomatous polyposis 11 test
Familial adenomatous polyposis 21 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial aplasia of the vermis1 test
Familial apolipoprotein C-II deficiency3 tests
Familial atrial myxoma1 test
Familial benign pemphigus1 test
Familial cancer of breast1 test
Familial cold autoinflammatory syndrome1 test
Familial cold autoinflammatory syndrome 11 test
Familial cylindromatosis1 test
Familial dysautonomia1 test
Familial dysfibrinogenemia1 test
Familial episodic pain syndrome1 test
Familial episodic pain syndrome with predominantly lower limb involvement1 test
Familial gestational hyperthyroidism1 test
Familial hemiplegic migraine1 test
Familial hemophagocytic lymphohistiocytosis1 test
Familial hemophagocytic lymphohistiocytosis 21 test
Familial hemophagocytic lymphohistiocytosis 31 test
Familial hemophagocytic lymphohistiocytosis 41 test
Familial hemophagocytic lymphohistiocytosis 51 test
Familial hypercholesterolemia1 test
Familial hyperkalemic periodic paralysis1 test
Familial hypobetalipoproteinemia 11 test
Familial hypobetalipoproteinemia 21 test
Familial hypocalciuric hypercalcemia 11 test
Familial hypocalciuric hypercalcemia 21 test
Familial hypocalciuric hypercalcemia 31 test
Familial hypokalemia-hypomagnesemia1 test
Familial hypoparathyroidism1 test
Familial infantile myasthenia1 test
Familial isolated deficiency of vitamin E1 test
Familial juvenile hyperuricemic nephropathy type 12 tests
Familial juvenile hyperuricemic nephropathy type 21 test
Familial Mediterranean fever3 tests
Familial Mediterranean fever, autosomal dominant1 test
Familial medullary thyroid carcinoma1 test
Familial partial lipodystrophy, Dunnigan type1 test
Familial porencephaly1 test
Familial porphyria cutanea tarda1 test
Familial renal glucosuria1 test
Familial spontaneous pneumothorax1 test
Familial thoracic aortic aneurysm and aortic dissection1 test
Familial type 3 hyperlipoproteinemia1 test
Familial type 5 hyperlipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type1 test
Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
Fanconi anemia complementation group A1 test
Fanconi anemia complementation group C1 test
Fanconi anemia complementation group G1 test
Fanconi anemia complementation group N1 test
Fanconi-Bickel syndrome1 test
Farber lipogranulomatosis1 test
Fatal familial insomnia1 test
Fatal multiple mitochondrial dysfunctions syndrome1 test
Febrile seizures, familial, 81 test
Feingold syndrome type 11 test
Fetal akinesia deformation sequence 12 tests
FG syndrome 11 test
Fibrosis of extraocular muscles, congenital, 21 test
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1 test
Fibrous dysplasia of jaw1 test
Finnish congenital nephrotic syndrome1 test
Finnish type amyloidosis1 test
Floating-Harbor syndrome1 test
Focal dermal hypoplasia1 test
Focal segmental glomerulosclerosis1 test
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 3, susceptibility to1 test
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 61 test
Fragile X syndrome1 test
Fraser syndrome 11 test
Frasier syndrome1 test
Freeman-Sheldon syndrome1 test
Friedreich ataxia 11 test
Frontometaphyseal dysplasia 11 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
Frontonasal dysplasia with alopecia and genital anomaly1 test
Frontorhiny1 test
Frontotemporal dementia1 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 31 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 62 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 71 test
Fructose-biphosphatase deficiency1 test
Fuhrmann syndrome1 test
Galactosylceramide beta-galactosidase deficiency1 test
Galloway-Mowat syndrome1 test
GAPO syndrome1 test
Gastrointestinal stromal tumor1 test
Gaucher disease due to saposin C deficiency1 test
Gaucher disease perinatal lethal1 test
Gaucher disease type I1 test
Gaucher disease type II1 test
Gaucher disease type III1 test
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1 test
Generalized dominant dystrophic epidermolysis bullosa1 test
Generalized epilepsy with febrile seizures plus1 test
Generalized epilepsy with febrile seizures plus, type 21 test
Generalized epilepsy with febrile seizures plus, type 71 test
Generalized juvenile polyposis/juvenile polyposis coli1 test
Genitopatellar syndrome1 test
Giant axonal neuropathy 11 test
Gilbert syndrome1 test
Glanzmann thrombasthenia1 test
Glaucoma1 test
Glaucoma 1, open angle, A2 tests
Glaucoma 1, open angle, F1 test
Glaucoma 1, open angle, G1 test
Glaucoma 1, open angle, O1 test
Glaucoma 3, primary congenital, D1 test
Glaucoma 3A3 tests
Glaucoma, normal tension, susceptibility to1 test
Glomuvenous malformation1 test
Glucocorticoid deficiency with achalasia1 test
Glucocorticoid resistance1 test
Glucocorticoid-remediable aldosteronism1 test
Glucose-6-phosphate transport defect1 test
Glutaric aciduria, type 11 test
Glutathione synthetase deficiency without 5-oxoprolinuria1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease IXa11 test
Glycogen storage disease IXb1 test
Glycogen storage disease IXc1 test
Glycogen storage disease IXd1 test
Glycogen storage disease type III1 test
Glycogen storage disease type X2 tests
Glycogen storage disease XV1 test
Glycogen storage disease, type II1 test
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V2 tests
Glycogen storage disease, type VI1 test
Glycogen storage disease, type VII1 test
Glycogen storage disorder due to hepatic glycogen synthase deficiency1 test
GM1 gangliosidosis type 21 test
GM1 gangliosidosis type 31 test
GNE myopathy1 test
GNPTG-mucolipidosis1 test
Gonadotropin-independent familial sexual precocity1 test
Gorlin syndrome1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 11 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 21 test
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31 test
Granulomatous disease, chronic, X-linked1 test
Greig cephalopolysyndactyly syndrome1 test
Griscelli syndrome1 test
Growth delay due to insulin-like growth factor I resistance1 test
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
GTP cyclohydrolase I deficiency1 test
Hallermann-Streiff syndrome1 test
Hb SS disease1 test
Heart, malformation of1 test
Hecht syndrome1 test
HELIX syndrome1 test
Hemochromatosis type 11 test
Hemochromatosis type 2A1 test
Hemochromatosis type 2B1 test
Hemochromatosis type 31 test
Hemochromatosis type 41 test
Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
Hepatic adenomas, familial1 test
Hereditary acrodermatitis enteropathica1 test
Hereditary amyloidosis1 test
Hereditary angioneurotic edema2 tests
Hereditary antithrombin deficiency1 test
Hereditary coproporphyria1 test
Hereditary diffuse gastric adenocarcinoma1 test
Hereditary diffuse leukoencephalopathy with spheroids1 test
Hereditary disease290 tests
Hereditary factor IX deficiency disease1 test
Hereditary factor VIII deficiency disease1 test
Hereditary factor XI deficiency disease1 test
Hereditary fructosuria1 test
Hereditary hearing loss and deafness1 test
Hereditary hemochromatosis1 test
Hereditary hyperferritinemia with congenital cataracts1 test
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary intrinsic factor deficiency1 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary liability to pressure palsies1 test
Hereditary lymphedema type I2 tests
Hereditary motor and sensory neuropathy with optic atrophy1 test
Hereditary pancreatitis1 test
Hereditary sensory and autonomic neuropathy type 11 test
Hereditary sensory and autonomic neuropathy type 21 test
Hereditary spastic paraplegia 101 test
Hereditary spastic paraplegia 111 test
Hereditary spastic paraplegia 121 test
Hereditary spastic paraplegia 131 test
Hereditary spastic paraplegia 151 test
Hereditary spastic paraplegia 171 test
Hereditary spastic paraplegia 21 test
Hereditary spastic paraplegia 311 test
Hereditary spastic paraplegia 331 test
Hereditary spastic paraplegia 351 test
Hereditary spastic paraplegia 391 test
Hereditary spastic paraplegia 3A1 test
Hereditary spastic paraplegia 41 test
Hereditary spastic paraplegia 421 test
Hereditary spastic paraplegia 481 test
Hereditary spastic paraplegia 5A1 test
Hereditary spastic paraplegia 61 test
Hereditary spastic paraplegia 71 test
Hereditary spastic paraplegia 81 test
Hereditary spherocytosis1 test
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
Hereditary von Willebrand disease1 test
Hermansky-Pudlak syndrome1 test
Heterotaxy, visceral, 1, X-linked3 tests
Heterotaxy, visceral, 2, autosomal3 tests
Heterotaxy, visceral, 4, autosomal1 test
Heterotaxy, visceral, 6, autosomal1 test
Heterotaxy, visceral, 7, autosomal1 test
Heterotaxy, visceral, 8, autosomal1 test
Heterotopia, periventricular, X-linked dominant2 tests
Hidrotic ectodermal dysplasia syndrome2 tests
Hirschsprung disease, susceptibility to, 11 test
Hirschsprung disease, susceptibility to, 21 test
Hirschsprung disease, susceptibility to, 31 test
Hirschsprung disease, susceptibility to, 41 test
Holocarboxylase synthetase deficiency2 tests
Holoprosencephaly sequence1 test
Holt-Oram syndrome1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Huntington disease1 test
Huntington disease-like 21 test
Hyaline fibromatosis syndrome1 test
Hydatidiform mole, recurrent, 11 test
Hydrolethalus syndrome 11 test
Hydrolethalus syndrome 21 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2 tests
Hyper-IgE syndrome1 test
Hyper-IgM syndrome type 11 test
Hyper-IgM syndrome type 21 test
Hyper-IgM syndrome type 31 test
Hyper-IgM syndrome type 51 test
Hyperammonemia, type III2 tests
Hypercalcemia, infantile, 11 test
Hypercholesterolemia, autosomal dominant, 32 tests
Hypercholesterolemia, autosomal dominant, type B1 test
Hyperekplexia 11 test
Hyperekplexia 21 test
Hyperekplexia 31 test
Hyperglycinuria1 test
Hyperhomocysteinemia1 test
Hyperimmunoglobulin D with periodic fever2 tests
Hyperinsulinemic hypoglycemia, familial, 11 test
Hyperinsulinemic hypoglycemia, familial, 22 tests
Hyperinsulinism due to glucokinase deficiency1 test
Hyperinsulinism due to INSR deficiency1 test
Hyperinsulinism-hyperammonemia syndrome1 test
Hyperlipoproteinemia type IV1 test
Hyperlipoproteinemia, type 1D2 tests
Hyperlipoproteinemia, type I2 tests
Hyperparathyroidism1 test
Hyperparathyroidism 2 with jaw tumors1 test
Hyperphenylalaninemia due to DNAJC12 deficiency1 test
Hyperphosphatasemia tarda2 tests
Hyperprolinemia type 21 test
Hypertriglyceridemia 12 tests
Hypertrophic cardiomyopathy 11 test
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 111 test
Hypertrophic cardiomyopathy 121 test
Hypertrophic cardiomyopathy 131 test
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 151 test
Hypertrophic cardiomyopathy 181 test
Hypertrophic cardiomyopathy 21 test
Hypertrophic cardiomyopathy 201 test
Hypertrophic cardiomyopathy 251 test
Hypertrophic cardiomyopathy 31 test
Hypertrophic cardiomyopathy 41 test
Hypertrophic cardiomyopathy 61 test
Hypertrophic cardiomyopathy 71 test
Hypertrophic cardiomyopathy 81 test
Hypertrophic cardiomyopathy 91 test
Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
Hypochondroplasia1 test
Hypogonadotropic hypogonadism 1 with or without anosmia2 tests
Hypogonadotropic hypogonadism 13 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia2 tests
Hypogonadotropic hypogonadism 3 with or without anosmia2 tests
Hypogonadotropic hypogonadism 4 with or without anosmia2 tests
Hypogonadotropic hypogonadism 5 with or without anosmia2 tests
Hypogonadotropic hypogonadism 6 with or without anosmia2 tests
Hypogonadotropic hypogonadism 7 with or without anosmia1 test
Hypogonadotropic hypogonadism 8 with or without anosmia1 test
Hypohidrotic X-linked ectodermal dysplasia1 test
Hypokalemic periodic paralysis, type 11 test
Hypokalemic periodic paralysis, type 21 test
Hypomyelinating leukodystrophy 21 test
Hypophosphatemic rickets2 tests
Hypophosphatemic rickets, autosomal recessive, 12 tests
Hypophosphatemic rickets, autosomal recessive, 21 test
Hypoplastic left heart syndrome 11 test
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Hypospadias 1, X-linked1 test
Hypospadias 2, X-linked1 test
Hypothyroidism due to TSH receptor mutations1 test
Hypotrichosis 11 test
Hypotrichosis 21 test
Hypouricemia, renal, 21 test
Ichthyosis2 tests
Ichthyosis bullosa of Siemens1 test
Ichthyosis lamellar, recessive1 test
Ichthyosis vulgaris1 test
Idiopathic basal ganglia calcification 11 test
Idiopathic growth hormone deficiency1 test
Idiopathic hypereosinophilic syndrome1 test
Iminoglycinuria1 test
Immunodeficiency 1041 test
Immunodeficiency 181 test
Immunodeficiency 191 test
Immunodeficiency 351 test
Immunodeficiency, common variable, 11 test
Immunodeficiency, common variable, 21 test
Immunodeficiency, common variable, 31 test
Immunodeficiency, common variable, 41 test
Immunodeficiency, common variable, 51 test
Immunodeficiency, common variable, 61 test
Immunodeficiency-centromeric instability-facial anomalies syndrome 11 test
Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
Immunodeficiency-centromeric instability-facial anomalies syndrome 31 test
Immunodeficiency-centromeric instability-facial anomalies syndrome 41 test
Immunoglobulin-mediated membranoproliferative glomerulonephritis1 test
Incontinentia pigmenti syndrome1 test
Infantile GM1 gangliosidosis1 test
Infantile hypophosphatasia1 test
Infantile nephronophthisis1 test
Infantile neuroaxonal dystrophy1 test
Infantile onset spinocerebellar ataxia1 test
Infantile-onset ascending hereditary spastic paralysis1 test
Infantile-onset X-linked spinal muscular atrophy2 tests
Inflammatory bowel disease1 test
Inflammatory bowel disease 11 test
Inherited Creutzfeldt-Jakob disease1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual disability, X-linked 191 test
Intellectual disability, X-linked, with or without seizures, arx-related2 tests
Interstitial lung disease 21 test
Interstitial lung disease due to ABCA3 deficiency1 test
Intestinal hypomagnesemia 11 test
Iodotyrosine deiodination defect1 test
Iodotyrosyl coupling defect1 test
Isolated coronal synostosis1 test
Isolated growth hormone deficiency type IB1 test
Isolated lutropin deficiency1 test
Isolated microphthalmia 21 test
Isolated microphthalmia 31 test
Isolated thyroid-stimulating hormone deficiency1 test
Isovaleryl-CoA dehydrogenase deficiency1 test
Jackson-Weiss syndrome1 test
Jervell and Lange-Nielsen syndrome1 test
Johanson-Blizzard syndrome1 test
Joubert syndrome 11 test
Joubert syndrome 101 test
Joubert syndrome 21 test
Joubert syndrome 31 test
Joubert syndrome 51 test
Joubert syndrome 61 test
Joubert syndrome 71 test
Joubert syndrome 81 test
Joubert syndrome 91 test
Joubert syndrome with renal defect1 test
Junctional epidermolysis bullosa gravis of Herlitz2 tests
Junctional epidermolysis bullosa with pyloric atresia2 tests
Junctional epidermolysis bullosa, non-Herlitz type2 tests
Juvenile myelomonocytic leukemia1 test
Juvenile myoclonic epilepsy1 test
Juvenile nephropathic cystinosis1 test
Juvenile retinoschisis1 test
Kabuki syndrome1 test
Kabuki syndrome 11 test
Kabuki syndrome 21 test
Kartagener syndrome1 test
KBG syndrome1 test
Kearns-Sayre syndrome1 test
Kennedy disease1 test
Keratoconus 11 test
Keratosis follicularis1 test
Kindler syndrome2 tests
Kleefstra syndrome 11 test
Klippel-Feil syndrome1 test
Klippel-Feil syndrome 1, autosomal dominant1 test
Klippel-Feil syndrome 2, autosomal recessive1 test
Klippel-Feil syndrome 3, autosomal dominant1 test
Kniest dysplasia1 test
Knobloch syndrome1 test
Koolen-de Vries syndrome1 test
Kostmann syndrome1 test
Kufor-Rakeb syndrome1 test
Lafora disease1 test
LAMB2-related infantile-onset nephrotic syndrome2 tests
Laron-type isolated somatotropin defect1 test
Larsen syndrome1 test
Leber congenital amaurosis1 test
Leber congenital amaurosis 11 test
Leber congenital amaurosis 101 test
Leber congenital amaurosis 111 test
Leber congenital amaurosis 121 test
Leber congenital amaurosis 131 test
Leber congenital amaurosis 141 test
Leber congenital amaurosis 151 test
Leber congenital amaurosis 161 test
Leber congenital amaurosis 21 test
Leber congenital amaurosis 31 test
Leber congenital amaurosis 42 tests
Leber congenital amaurosis 51 test
Leber congenital amaurosis 61 test
Leber congenital amaurosis 71 test
Leber congenital amaurosis 81 test
Leber optic atrophy1 test
Left ventricular noncompaction 11 test
Left ventricular noncompaction 101 test
Legius syndrome2 tests
Leigh syndrome2 tests
Leigh Syndrome (mtDNA mutation)1 test
Leprechaunism syndrome1 test
Leri-Weill dyschondrosteosis1 test
Lesch-Nyhan syndrome1 test
Lethal acantholytic epidermolysis bullosa2 tests
Lethal congenital contracture syndrome 11 test
Leukocyte adhesion deficiency1 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
Lewy body dementia1 test
Li-Fraumeni syndrome 11 test
Li-Fraumeni syndrome 21 test
Liddle syndrome 12 tests
Limb-girdle muscular dystrophy1 test
Lipase deficiency, combined2 tests
Lissencephaly1 test
Lissencephaly 41 test
Lissencephaly type 1 due to doublecortin gene mutation2 tests
Loeys-Dietz syndrome 12 tests
Loeys-Dietz syndrome 22 tests
Loeys-Dietz syndrome 41 test
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
Long QT syndrome2 tests
Lowe syndrome1 test
Lung carcinoma3 tests
Lymphangiomyomatosis1 test
Lymphatic malformation1 test
Lynch syndrome 11 test
Lynch syndrome 41 test
Lynch syndrome 51 test
Lysosomal acid lipase deficiency1 test
Macrocephaly-autism syndrome1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macular corneal dystrophy1 test
Majeed syndrome1 test
Malan overgrowth syndrome1 test
Malignant hyperthermia, susceptibility to, 11 test
Malignant hyperthermia, susceptibility to, 51 test
Malignant tumor of prostate1 test
Malignant tumor of urinary bladder1 test
Mandibulofacial dysostosis-microcephaly syndrome1 test
Marfan syndrome1 test
Marinesco-Sjögren syndrome1 test
Marshall-Smith syndrome1 test
MASA syndrome2 tests
Mastocytosis2 tests
Maturity-onset diabetes of the young type 11 test
Maturity-onset diabetes of the young type 101 test
Maturity-onset diabetes of the young type 111 test
Maturity-onset diabetes of the young type 131 test
Maturity-onset diabetes of the young type 141 test
Maturity-onset diabetes of the young type 21 test
Maturity-onset diabetes of the young type 31 test
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young type 61 test
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 81 test
Maturity-onset diabetes of the young type 91 test
McCune-Albright syndrome1 test
McLeod neuroacanthocytosis syndrome1 test
Meckel syndrome, type 11 test
Meckel syndrome, type 21 test
Meckel syndrome, type 31 test
Meckel syndrome, type 41 test
Meckel syndrome, type 51 test
Meckel syndrome, type 61 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Megaconial type congenital muscular dystrophy1 test
Megalencephalic leukoencephalopathy with subcortical cysts 11 test
Megalencephalic leukoencephalopathy with subcortical cysts 2A1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
MEGF8-related Carpenter syndrome1 test
Melanoma2 tests
Melanoma and neural system tumor syndrome1 test
Melanoma, cutaneous malignant, susceptibility to, 21 test
Melanoma, cutaneous malignant, susceptibility to, 31 test
Melanoma, cutaneous malignant, susceptibility to, 51 test
MELAS syndrome1 test
Melnick-Needles syndrome1 test
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1 test
Menkes kinky-hair syndrome1 test
Merosin deficient congenital muscular dystrophy1 test
MERRF syndrome1 test
Metachromatic leukodystrophy1 test
Metaphyseal chondrodysplasia, Jansen type1 test
Metaphyseal chondrodysplasia, Schmid type1 test
Metaphyseal dysplasia without hypotrichosis1 test
Methylcobalamin deficiency type cblE1 test
Methylcobalamin deficiency type cblG1 test
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1 test
Methylmalonic acidemia with homocystinuria, type cblJ1 test
Methylmalonic acidemia with homocystinuria, type cblX1 test
Methylmalonic aciduria and homocystinuria type cblD1 test
Methylmalonic aciduria and homocystinuria type cblF1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Methylmalonic aciduria, cblA type1 test
MHC class I deficiency1 test
MHC class II deficiency1 test
Microcephalic osteodysplastic primordial dwarfism type II2 tests
Microcephaly1 test
Microcephaly 1, primary, autosomal recessive1 test
Microcephaly 11, primary, autosomal recessive1 test
Microcephaly 12, primary, autosomal recessive1 test
Microcephaly 14, primary, autosomal recessive1 test
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1 test
Microcephaly 3, primary, autosomal recessive1 test
Microcephaly 4, primary, autosomal recessive1 test
Microcephaly 5, primary, autosomal recessive1 test
Microcephaly 6, primary, autosomal recessive1 test
Microcephaly 7, primary, autosomal recessive1 test
Microcephaly 8, primary, autosomal recessive1 test
Microcephaly 9, primary, autosomal recessive1 test
Microcytic anemia1 test
Microphthalmia, isolated, with coloboma 51 test
Microspherophakia1 test
Mitochondrial complex I deficiency2 tests
Mitochondrial complex II deficiency, nuclear type 11 test
Mitochondrial complex III deficiency nuclear type 11 test
Mitochondrial complex III deficiency nuclear type 21 test
Mitochondrial complex III deficiency nuclear type 31 test
Mitochondrial complex III deficiency nuclear type 41 test
Mitochondrial complex IV deficiency, nuclear type 11 test
Mitochondrial disease1 test
Mitochondrial DNA depletion syndrome 11 test
Mitochondrial DNA depletion syndrome 131 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 4b2 tests
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 8a2 tests
Mitochondrial DNA depletion syndrome 91 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Mitochondrial DNA depletion syndrome, myopathic form1 test
Mitochondrial myopathy-lactic acidosis-deafness syndrome1 test
Miyoshi muscular dystrophy 11 test
Miyoshi muscular dystrophy 31 test
Monocytopenia with susceptibility to infections1 test
Motor developmental delay due to 14q32.2 paternally expressed gene defect1 test
Mowat-Wilson syndrome1 test
Moyamoya disease1 test
MPI-congenital disorder of glycosylation1 test
Mucolipidosis type II1 test
Mucopolysaccharidosis type 61 test
Mucopolysaccharidosis type 71 test
Mucopolysaccharidosis, MPS-I-H/S1 test
Mucopolysaccharidosis, MPS-I-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
Multiple congenital exostosis2 tests
Multiple endocrine neoplasia type 2A1 test
Multiple endocrine neoplasia type 2B1 test
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 11 test
Multiple epiphyseal dysplasia type 41 test
Multiple Epiphyseal Dysplasia, Dominant1 test
Multiple synostoses syndrome 21 test
Multiple synostoses syndrome 31 test
Muscle AMP deaminase deficiency1 test
Muscle eye brain disease1 test
Muscular dystrophy1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 42 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51 test
Mutilating keratoderma1 test
Myasthenic syndrome, congenital, 1B, fast-channel2 tests
Myasthenic syndrome, slow-channel congenital2 tests
MYH7-related skeletal myopathy1 test
Myoclonic dystonia 112 tests
Myofibrillar myopathy1 test
Myofibrillar myopathy 21 test
Myofibrillar myopathy 32 tests
Myofibrillar myopathy 41 test
Myofibrillar myopathy 51 test
Myofibrillar myopathy 61 test
Myopathy1 test
Myopathy, centronuclear, 21 test
Myotonic dystrophy type 21 test
Nager syndrome1 test
Nail-patella syndrome1 test
NARP syndrome1 test
Nemaline myopathy1 test
Neonatal intrahepatic cholestasis due to citrin deficiency2 tests
Neoplasm of stomach1 test
Nephronophthisis3 tests
Nephronophthisis 11 test
Nephronophthisis 31 test
Nephronophthisis 41 test
Nephronophthisis 71 test
Nephronophthisis 91 test
Nephropathic cystinosis1 test
Nephrotic syndrome, type 21 test
Nephrotic syndrome, type 31 test
Nephrotic syndrome, type 43 tests
Nephrotic syndrome, type 61 test
Netherton syndrome1 test
Neurodegeneration with brain iron accumulation 2B1 test
Neurodegeneration with brain iron accumulation 51 test
Neuroferritinopathy1 test
Neurofibromatosis, type 11 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 21 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Neuronopathy, distal hereditary motor, autosomal recessive 41 test
Neutral 1 amino acid transport defect1 test
Neutral lipid storage myopathy1 test
Neutropenia, severe congenital, 1, autosomal dominant1 test
Nicolaides-Baraitser syndrome1 test
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C11 test
Niemann-Pick disease, type C21 test
Nijmegen breakage syndrome-like disorder1 test
Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
Non-Hodgkin lymphoma1 test
Non-ketotic hyperglycinemia1 test
Nonpapillary renal cell carcinoma1 test
Nonsyndromic genetic hearing loss1 test
Noonan syndrome1 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 with multiple lentigines1 test
Norman-Roberts syndrome1 test
Obesity2 tests
OBESITY (BMIQ9), SUSCEPTIBILITY TO1 test
Obesity due to congenital leptin deficiency1 test
Obesity due to leptin receptor gene deficiency1 test
Obesity due to pro-opiomelanocortin deficiency1 test
Obesity due to prohormone convertase I deficiency1 test
Ocular albinism, type I1 test
Ocular cystinosis1 test
Oculocutaneous albinism2 tests
Oculocutaneous albinism type 11 test
Oculocutaneous albinism type 1B1 test
Oculocutaneous albinism type 31 test
Oculodentodigital dysplasia1 test
Oculodentodigital dysplasia, autosomal recessive1 test
Oculofaciocardiodental syndrome1 test
Oculopharyngeal muscular dystrophy1 test
Odonto-onycho-dermal dysplasia1 test
Oguchi disease2 tests
Oguchi disease-22 tests
Oligodendroglioma1 test
Optic atrophy 31 test
Ornithine carbamoyltransferase deficiency2 tests
Orofaciodigital syndrome I1 test
Orofaciodigital syndrome type 61 test
Oroticaciduria1 test
Osteogenesis imperfecta1 test
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 111 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 131 test
Osteogenesis imperfecta type 151 test
Osteogenesis imperfecta type 61 test
Osteogenesis imperfecta type 71 test
Osteogenesis imperfecta type 81 test
Osteogenesis imperfecta type 91 test
Osteopathia striata with cranial sclerosis1 test
Osteopetrosis with renal tubular acidosis2 tests
Osteoporosis with pseudoglioma1 test
Oto-palato-digital syndrome, type I1 test
Oto-palato-digital syndrome, type II1 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
Ovarian dysgenesis 11 test
Ovarian dysgenesis 21 test
Pachyonychia congenita syndrome2 tests
Paget disease of bone 31 test
Pallister-Hall syndrome1 test
Palmoplantar keratoderma, epidermolytic1 test
Palmoplantar keratoderma, nonepidermolytic, focal 11 test
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
Palmoplantar keratoderma-deafness syndrome1 test
Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
Papillary renal cell carcinoma type 11 test
Papillary thyroid carcinoma1 test
Paragangliomas 21 test
Paragangliomas 31 test
Paragangliomas 41 test
Paragangliomas 51 test
Paramyotonia congenita of Von Eulenburg1 test
Parietal foramina 11 test
Parietal foramina 21 test
Parkes Weber syndrome2 tests
Parkinson disease 171 test
Parkinson disease 5, autosomal dominant, susceptibility to1 test
Parkinsonian-pyramidal syndrome1 test
Paroxysmal extreme pain disorder1 test
Paroxysmal nocturnal hemoglobinuria1 test
Paroxysmal nonkinesigenic dyskinesia 11 test
Partial androgen insensitivity syndrome1 test
Partington syndrome1 test
Paternal uniparental disomy of chromosome 141 test
PCWH syndrome1 test
Pelizaeus-Merzbacher disease1 test
Pendred syndrome1 test
Periventricular nodular heterotopia1 test
Perlman syndrome1 test
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorder 3A (Zellweger)1 test
Peroxisome biogenesis disorder 4A (Zellweger)1 test
Peroxisome biogenesis disorder 5A (Zellweger)1 test
Peroxisome biogenesis disorder 6A (Zellweger)1 test
Peroxisome biogenesis disorder 7A (Zellweger)1 test
Perrault syndrome1 test
Perry syndrome1 test
Persistent Mullerian duct syndrome1 test
Persistent truncus arteriosus1 test
Peters plus syndrome1 test
Peutz-Jeghers syndrome1 test
PFAPA syndrome2 tests
Pfeiffer syndrome1 test
PGM1-congenital disorder of glycosylation1 test
Phenylketonuria1 test
Pheochromocytoma2 tests
Phosphate transport defect1 test
Pick disease1 test
Piebaldism1 test
Pigmentary pallidal degeneration1 test
Pigmentary retinal dystrophy2 tests
Pitt-Hopkins syndrome1 test
Pitt-Hopkins-like syndrome1 test
Pituitary adenoma, growth hormone-secreting, 21 test
Pituitary dependent hypercortisolism1 test
Pituitary hormone deficiency, combined, 11 test
Pituitary hormone deficiency, combined, 21 test
Pituitary hormone deficiency, combined, 61 test
Plasminogen deficiency, type I1 test
Pleuropulmonary blastoma1 test
PMM2-congenital disorder of glycosylation2 tests
Polycystic kidney disease 21 test
Polycystic kidney disease, adult type1 test
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
Polycystic liver disease 11 test
Polydactyly of a triphalangeal thumb1 test
Polydactyly, postaxial, type A11 test
Polyglandular autoimmune syndrome, type 11 test
Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
Pontocerebellar hypoplasia type 1A1 test
Pontocerebellar hypoplasia type 1B1 test
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 2B1 test
Pontocerebellar hypoplasia type 2C1 test
Pontocerebellar hypoplasia type 41 test
Pontocerebellar hypoplasia type 51 test
Pontocerebellar hypoplasia type 61 test
Pontocerebellar hypoplasia type 81 test
Pontoneocerebellar hypoplasia1 test
Porphobilinogen synthase deficiency1 test
Posterior polymorphous corneal dystrophy 31 test
PPARG-related familial partial lipodystrophy1 test
Prader-Willi syndrome1 test
Pregnancy loss, recurrent, susceptibility to, 11 test
Pregnancy loss, recurrent, susceptibility to, 21 test
Premature ovarian failure 2A1 test
Premature ovarian failure 31 test
Pretibial dystrophic epidermolysis bullosa1 test
Primary ciliary dyskinesia 131 test
Primary ciliary dyskinesia 141 test
Primary ciliary dyskinesia 151 test
Primary ciliary dyskinesia 191 test
Primary ciliary dyskinesia 31 test
Primary ciliary dyskinesia 71 test
Primary ciliary dyskinesia 91 test
Primary erythromelalgia1 test
Primary familial dilated cardiomyopathy1 test
Primary familial polycythemia due to EPO receptor mutation2 tests
Primary hyperoxaluria1 test
Primary hyperoxaluria type 31 test
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Primary hypomagnesemia2 tests
Primary myelofibrosis1 test
Primary open angle glaucoma1 test
Progressive bulbar palsy of childhood1 test
Progressive external ophthalmoplegia1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 12 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 22 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 32 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 42 tests
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 21 test
Progressive familial intrahepatic cholestasis type 31 test
Progressive myoclonic epilepsy1 test
Progressive myoclonic epilepsy type 31 test
Progressive myositis ossificans1 test
Progressive osseous heteroplasia1 test
Progressive pseudorheumatoid dysplasia1 test
Progressive sclerosing poliodystrophy2 tests
Progressive supranuclear ophthalmoplegia1 test
Progressive supranuclear palsy-parkinsonism syndrome1 test
Prolactin-producing pituitary gland adenoma1 test
Proline dehydrogenase deficiency1 test
Properdin deficiency, X-linked1 test
Propionic acidemia1 test
Protoporphyria, erythropoietic, 11 test
Pseudo-Hurler polydystrophy1 test
Pseudo-TORCH syndrome 11 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
Pseudoexfoliation glaucoma1 test
Pseudohyperaldosteronism type 21 test
Pseudohypoaldosteronism type 2A1 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Pseudohypoaldosteronism, type IB1, autosomal recessive1 test
Pseudohypoparathyroidism2 tests
Pseudohypoparathyroidism type 1B1 test
Pseudohypoparathyroidism type 1C1 test
Pseudopseudohypoparathyroidism2 tests
Pulmonary hypertension, primary, 11 test
Purine-nucleoside phosphorylase deficiency1 test
PYCR1-related de Barsy syndrome1 test
Pyknodysostosis1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
Pyruvate dehydrogenase E1-alpha deficiency2 tests
Pyruvate dehydrogenase E1-beta deficiency1 test
Pyruvate dehydrogenase E2 deficiency1 test
Pyruvate dehydrogenase E3 deficiency2 tests
Pyruvate dehydrogenase E3-binding protein deficiency1 test
Pyruvate dehydrogenase phosphatase deficiency1 test
Pyruvate kinase deficiency of red cells1 test
RAB23-related Carpenter syndrome1 test
Rabson-Mendenhall syndrome1 test
Radial aplasia-thrombocytopenia syndrome1 test
Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
Rapadilino syndrome1 test
Rapp-Hodgkin syndrome1 test
Recessive dystrophic epidermolysis bullosa1 test
Refsum disease, adult, 11 test
Renal carnitine transport defect1 test
Renal coloboma syndrome1 test
Renal cysts and diabetes syndrome1 test
Renal hypomagnesemia 21 test
Renal hypomagnesemia 41 test
Renal hypomagnesemia 5 with ocular involvement1 test
Renal hypomagnesemia 61 test
Renal tubular acidosis1 test
Renal tubular acidosis with progressive nerve deafness1 test
Renal tubular dysgenesis1 test
Retinal cone dystrophy 3A1 test
Retinitis pigmentosa2 tests
Retinitis pigmentosa 11 test
Retinitis pigmentosa 101 test
Retinitis pigmentosa 111 test
Retinitis pigmentosa 121 test
Retinitis pigmentosa 181 test
Retinitis pigmentosa 191 test
Retinitis pigmentosa 21 test
Retinitis pigmentosa 201 test
Retinitis pigmentosa 251 test
Retinitis pigmentosa 261 test
Retinitis pigmentosa 31 test
Retinitis pigmentosa 391 test
Retinitis pigmentosa 41 test
Retinitis pigmentosa 401 test
Retinitis pigmentosa 431 test
Retinitis pigmentosa 471 test
Retinitis pigmentosa 71 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Retinoblastoma1 test
Rett syndrome1 test
Rett syndrome, congenital variant1 test
Rhabdoid tumor predisposition syndrome 11 test
Rhabdoid tumor predisposition syndrome 21 test
Rhizomelic chondrodysplasia punctata type 11 test
Rhizomelic chondrodysplasia punctata type 21 test
Rhizomelic chondrodysplasia punctata type 31 test
Right atrial isomerism1 test
Rippling muscle disease 21 test
Roberts-SC phocomelia syndrome1 test
Rothmund-Thomson syndrome1 test
Roussy-Lévy syndrome1 test
Rubinstein-Taybi syndrome due to CREBBP mutations1 test
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1 test
Saethre-Chotzen syndrome1 test
Saldino-Mainzer syndrome1 test
Salla disease1 test
Sandhoff disease2 tests
Sarcotubular myopathy1 test
Schimke immuno-osseous dysplasia1 test
Schinzel-Giedion syndrome1 test
Schizencephaly1 test
Schwannomatosis1 test
SCHWANNOMATOSIS, SOMATIC1 test
Schwartz-Jampel syndrome1 test
Sclerosteosis 11 test
Seckel syndrome1 test
Seckel syndrome 11 test
Seckel syndrome 21 test
Seckel syndrome 41 test
Seckel syndrome 51 test
Seckel syndrome 61 test
Seckel syndrome 81 test
Seizures, benign familial infantile, 21 test
Seizures, benign familial neonatal, 11 test
Seizures, benign familial neonatal, 22 tests
Sengers syndrome1 test
Senior-Loken syndrome 11 test
Senior-Loken syndrome 41 test
Senior-Loken syndrome 51 test
Senior-Loken syndrome 61 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
Septo-optic dysplasia sequence2 tests
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
Severe early-childhood-onset retinal dystrophy1 test
Severe myoclonic epilepsy in infancy1 test
Severe X-linked myotubular myopathy1 test
Short QT syndrome type 11 test
Short QT syndrome type 21 test
Short QT syndrome type 31 test
Short stature due to partial GHR deficiency1 test
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
SHORT syndrome1 test
SHOX-related short stature1 test
Shprintzen-Goldberg syndrome1 test
Shwachman-Diamond syndrome 11 test
Sialic acid storage disease, severe infantile type1 test
Silver-Russell syndrome 11 test
Simpson-Golabi-Behmel syndrome type 11 test
Sitosterolemia1 test
Sjögren-Larsson syndrome1 test
Skin/hair/eye pigmentation, variation in, 41 test
Smith-Lemli-Opitz syndrome1 test
Smith-Magenis syndrome1 test
Somatotroph adenoma3 tests
Sorsby fundus dystrophy1 test
Sotos syndrome1 test
Spastic ataxia1 test
Spastic ataxia 11 test
Spastic ataxia 21 test
Spastic ataxia 31 test
Spastic ataxia 41 test
Spastic ataxia 51 test
Spastic paraplegia2 tests
Sphingolipid activator protein 1 deficiency1 test
Spinal muscular atrophy with congenital bone fractures 11 test
Spinal muscular atrophy with congenital bone fractures 21 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 121 test
Spinocerebellar ataxia type 131 test
Spinocerebellar ataxia type 141 test
Spinocerebellar ataxia type 15/161 test
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 281 test
Spinocerebellar ataxia type 351 test
Spinocerebellar ataxia type 361 test
Spinocerebellar ataxia type 51 test
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
Split hand-foot malformation 1 with sensorineural hearing loss2 tests
Split hand-foot malformation 31 test
Split hand-foot malformation 41 test
Split hand-foot malformation 61 test
Spondylocarpotarsal synostosis syndrome1 test
Spondylocostal dysostosis 1, autosomal recessive1 test
Spondylocostal dysostosis 2, autosomal recessive1 test
Spondylocostal dysostosis 3, autosomal recessive1 test
Spondylocostal dysostosis 4, autosomal recessive1 test
Spondylocostal dysostosis 51 test
Spondyloepiphyseal dysplasia tarda1 test
Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
Spondyloepiphyseal dysplasia, Stanescu type1 test
Spondylometaphyseal dysplasia, Kozlowski type1 test
Spongy degeneration of central nervous system1 test
Stargardt disease 31 test
Stargardt disease 41 test
Steinert myotonic dystrophy syndrome1 test
Sterile multifocal osteomyelitis with periostitis and pustulosis1 test
Stickler syndrome1 test
Stickler syndrome type 11 test
Stickler syndrome type 21 test
Stickler syndrome, type 41 test
Stickler syndrome, type 51 test
Sturge-Weber syndrome1 test
Stuve-Wiedemann syndrome1 test
Succinyl-CoA acetoacetate transferase deficiency1 test
Sucrase-isomaltase deficiency1 test
Sulfite oxidase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
Surfactant metabolism dysfunction, pulmonary, 11 test
Surfactant metabolism dysfunction, pulmonary, 21 test
Symmetrical dyschromatosis of extremities1 test
Symphalangism-brachydactyly syndrome1 test
Syndactyly1 test
Syndactyly type 31 test
Syndactyly type 41 test
Syndromic microphthalmia type 51 test
Syndromic X-linked intellectual disability Hedera type1 test
Syndromic X-linked intellectual disability Lubs type1 test
Syndromic X-linked intellectual disability Snyder type1 test
T-B+ severe combined immunodeficiency due to JAK3 deficiency1 test
Tay-Sachs disease2 tests
Tay-Sachs disease, variant AB1 test
Telangiectasia, hereditary hemorrhagic, type 12 tests
Testosterone 17-beta-dehydrogenase deficiency1 test
Tetralogy of Fallot1 test
Thanatophoric dysplasia type 11 test
Thanatophoric dysplasia, type 21 test
Thiopurine S-methyltransferase deficiency1 test
Thrombocythemia 12 tests
Thrombocythemia 22 tests
Thrombocythemia 31 test
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia1 test
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to protein C deficiency, autosomal dominant1 test
Thrombophilia due to protein S deficiency, autosomal dominant1 test
Thrombophilia due to protein S deficiency, autosomal recessive1 test
Thrombophilia due to thrombin defect2 tests
Thyroglobulin synthesis defect1 test
Thyroid dyshormonogenesis 11 test
Thyroid hormone resistance, generalized, autosomal dominant1 test
Thyrotoxic periodic paralysis, susceptibility to, 11 test
Thyrotoxic periodic paralysis, susceptibility to, 22 tests
TNF receptor-associated periodic fever syndrome (TRAPS)2 tests
Torsion dystonia 21 test
Torsion dystonia 41 test
Torsion dystonia 61 test
Tourette syndrome1 test
Townes-Brocks syndrome 11 test
Transcobalamin II deficiency1 test
Transferrin serum level quantitative trait locus 21 test
Transposition of the great arteries1 test
Transposition of the great arteries, dextro-looped2 tests
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Treacher Collins syndrome 31 test
Tricho-dento-osseous syndrome1 test
Trichohepatoenteric syndrome 11 test
Trichohepatoenteric syndrome 21 test
Trichorhinophalangeal dysplasia type I1 test
Trichorhinophalangeal syndrome, type III1 test
Trichothiodystrophy1 test
Trichothiodystrophy 1, photosensitive1 test
Trichothiodystrophy 2, photosensitive1 test
Trichothiodystrophy 3, photosensitive1 test
Trimethylaminuria1 test
Troyer syndrome1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tumoral calcinosis, hyperphosphatemic, familial, 11 test
TWIST1-related craniosynostosis1 test
Type A2 brachydactyly1 test
Tyrosinase-positive oculocutaneous albinism1 test
Tyrosinemia type I1 test
Tyrosinemia type II1 test
Tyrosinemia type III1 test
UDPglucose-4-epimerase deficiency1 test
Ullrich congenital muscular dystrophy 1A1 test
Ullrich congenital muscular dystrophy 21 test
Unverricht-Lundborg syndrome1 test
Upshaw-Schulman syndrome2 tests
Usher syndrome type 11 test
Usher syndrome type 1C1 test
Usher syndrome type 1D1 test
Usher syndrome type 1F1 test
Usher syndrome type 1G1 test
Usher syndrome type 2A1 test
Usher syndrome type 2C1 test
Usher syndrome type 2D1 test
Usher syndrome type 31 test
VACTERL with hydrocephalus1 test
Van Buchem disease type 21 test
Van der Woude syndrome 11 test
Vanishing white matter disease1 test
Variegate porphyria1 test
Ventricular septal defect 21 test
Very long chain acyl-CoA dehydrogenase deficiency2 tests
Visceral myopathy 11 test
Vitamin D-dependent rickets type II with alopecia1 test
Vitamin D-dependent rickets, type 11 test
Vitelliform macular dystrophy 22 tests
Von Hippel-Lindau syndrome1 test
Waardenburg syndrome type 11 test
Waardenburg syndrome type 21 test
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 2D1 test
Waardenburg syndrome type 2E1 test
Waardenburg syndrome type 4A1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C1 test
Wagner syndrome1 test
Walker-Warburg congenital muscular dystrophy1 test
Warburg micro syndrome 11 test
Warburg micro syndrome 21 test
Warburg micro syndrome 31 test
Warburg micro syndrome 41 test
Warfarin response1 test
Weaver syndrome1 test
Weill-Marchesani syndrome 11 test
Welander distal myopathy1 test
Werdnig-Hoffmann disease1 test
Werner syndrome1 test
West syndrome1 test
Wieacker-Wolff syndrome1 test
Wiedemann-Steiner syndrome1 test
Wilms tumor 11 test
Wilson disease1 test
Wiskott-Aldrich syndrome1 test
Wolff-Parkinson-White pattern1 test
Wolfram syndrome 11 test
Wolfram syndrome 21 test
Woodhouse-Sakati syndrome1 test
Wooly hair1 test
Worth disease1 test
X-linked agammaglobulinemia1 test
X-linked Alport syndrome1 test
X-linked chondrodysplasia punctata 11 test
X-linked complicated corpus callosum dysgenesis1 test
X-linked cone-rod dystrophy 11 test
X-linked cone-rod dystrophy 21 test
X-linked cone-rod dystrophy 31 test
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia1 test
X-linked Emery-Dreifuss muscular dystrophy1 test
X-linked erythropoietic protoporphyria1 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
X-linked intellectual disability with marfanoid habitus1 test
X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
X-linked intellectual disability-psychosis-macroorchidism syndrome1 test
X-linked lissencephaly with abnormal genitalia1 test
X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
X-linked lymphoproliferative disease due to XIAP 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 recessive nephrolithiasis with renal failure1 test
X-linked reticulate pigmentary disorder1 test
X-linked severe combined immunodeficiency1 test
X-linked severe congenital neutropenia1 test
X-linked sideroblastic anemia with ataxia1 test
Xeroderma pigmentosum group A1 test
Xeroderma pigmentosum group B1 test
Xeroderma pigmentosum variant type1 test
Xeroderma pigmentosum, group C1 test
Xeroderma pigmentosum, group D1 test
Xeroderma pigmentosum, group E1 test
Xeroderma pigmentosum, group F1 test
Xeroderma pigmentosum, group G1 test
Yao syndrome1 test
Zinc deficiency, transient neonatal1 test

List of services

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

Participation in external programs

Data exchange Programs

ICCG (International Collaboration for Clinical Genetics) - Previously ISCA

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