Bioarray

Personnel

Director: Luis Alcaraz-Mas, PhD, BSc, Lab Director
Phone: +(34)966682500
Fax: +(34)966682501
Email: luis.alcaraz@bioarray.es
Luis Valino-Castrillon, BSc, Administrator
Phone: +(34)-966682500
Fax: +(34)-966682501
Email: luis.valino@bioarray.es
Andrés Antón-Salas, MBA, Administrator
Phone: +(34)-966682500
Fax: +(34)-966682501
Email: andresanton@bioarray.es

Conditions and tests

1268 conditions/phenotypes with 1561 tests
Enter text to narrow down the list

3 beta-Hydroxysteroid dehydrogenase deficiency1 test
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
3M syndrome 22 tests
3MC syndrome1 test
3MC syndrome 11 test
3MC syndrome 21 test
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
46,XY partial gonadal dysgenesis1 test
46,XY sex reversal 11 test
46,XY sex reversal 31 test
4p partial monosomy syndrome1 test
Aarskog syndrome2 tests
Abetalipoproteinaemia1 test
ABO blood group system1 test
Achondrogenesis type II2 tests
Achondrogenesis, type IB1 test
Achondroplasia2 tests
Achromatopsia1 test
Achromatopsia 22 tests
Achromatopsia 32 tests
Achromatopsia 42 tests
Acquired partial lipodystrophy1 test
Acrocephalosyndactyly type I1 test
Acroerythrokeratoderma1 test
Acromesomelic dysplasia 2B1 test
Actin accumulation myopathy2 tests
Acute intermittent porphyria2 tests
Acyl-CoA oxidase deficiency1 test
Adams-Oliver syndrome 12 tests
Adams-Oliver syndrome 22 tests
Adrenal cortex carcinoma1 test
Adrenocortical carcinoma, pediatric1 test
Adrenoleukodystrophy1 test
Adult-onset foveomacular vitelliform dystrophy2 tests
Afibrinogenemia3 tests
Age-related macular degeneration1 test
Agenesis of the corpus callosum with peripheral neuropathy2 tests
Aicardi syndrome2 tests
Aicardi-Goutieres syndrome 12 tests
Aicardi-Goutieres syndrome 22 tests
Aicardi-Goutieres syndrome 32 tests
Aicardi-Goutieres syndrome 42 tests
Aicardi-Goutieres syndrome 51 test
Alagille syndrome due to a JAG1 point mutation2 tests
Alagille syndrome due to a NOTCH2 point mutation1 test
Alexander disease1 test
ALG6-congenital disorder of glycosylation 1C1 test
Alkaptonuria1 test
Alopecia universalis congenita1 test
alpha Thalassemia2 tests
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alpha-1-antitrypsin deficiency1 test
Alstrom syndrome4 tests
Alternating hemiplegia of childhood 11 test
Alternating hemiplegia of childhood 22 tests
Alzheimer disease3 tests
Alzheimer disease 21 test
Alzheimer disease 31 test
Alzheimer disease 42 tests
Amelogenesis imperfecta1 test
Amelogenesis imperfecta type 1E1 test
Amyloidosis, hereditary systemic 12 tests
Amyotrophic lateral sclerosis6 tests
Amyotrophic lateral sclerosis type 62 tests
Amyotrophic lateral sclerosis type 92 tests
Andersen Tawil syndrome1 test
Androgen resistance syndrome1 test
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome3 tests
Aniridia 11 test
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome1 test
Antley-Bixler syndrome1 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Apolipoprotein c-III deficiency1 test
Apparent mineralocorticoid excess3 tests
Arginase deficiency1 test
Aromatase deficiency1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1 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 91 test
Arterial calcification, generalized, of infancy, 11 test
Arterial tortuosity syndrome1 test
Arteriohepatic dysplasia1 test
Asperger syndrome, X-linked, susceptibility to, 11 test
Asphyxiating thoracic dystrophy 21 test
Asphyxiating thoracic dystrophy 41 test
Asphyxiating thoracic dystrophy 51 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
Ataxia-telangiectasia syndrome1 test
Ateleiotic dwarfism1 test
Atrial septal defect 21 test
Atrial septal defect 71 test
Atrioventricular septal defect 41 test
Atrophia bulborum hereditaria1 test
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly2 tests
Autoimmune lymphoproliferative syndrome type 11 test
Autoimmune lymphoproliferative syndrome type 2A1 test
Autoimmune lymphoproliferative syndrome, type 1b1 test
Autoimmune thyroid disease, susceptibility to, 31 test
Autosomal dominant Alport syndrome1 test
Autosomal dominant centronuclear myopathy2 tests
Autosomal dominant distal renal tubular acidosis1 test
Autosomal dominant hypophosphatemic rickets2 tests
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 21 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 41 test
Autosomal dominant nonsyndromic hearing loss 101 test
Autosomal dominant nonsyndromic hearing loss 121 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant osteopetrosis 21 test
Autosomal dominant Parkinson disease 11 test
Autosomal dominant Parkinson disease 41 test
Autosomal dominant Parkinson disease 81 test
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal dominant Robinow syndrome 11 test
Autosomal hypohidrotic ectodermal dysplasia2 tests
Autosomal recessive Alport syndrome1 test
Autosomal recessive ataxia due to ubiquinone deficiency1 test
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive bestrophinopathy1 test
Autosomal recessive congenital ichthyosis 11 test
Autosomal recessive congenital ichthyosis 101 test
Autosomal recessive congenital ichthyosis 21 test
Autosomal recessive congenital ichthyosis 31 test
Autosomal recessive congenital ichthyosis 4A1 test
Autosomal recessive congenital ichthyosis 4B1 test
Autosomal recessive congenital ichthyosis 51 test
Autosomal recessive congenital ichthyosis 61 test
Autosomal recessive 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 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 2I1 test
Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
Autosomal recessive nonsyndromic hearing loss 1A1 test
Autosomal recessive nonsyndromic hearing loss 91 test
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 Parkinson disease 141 test
Autosomal recessive polycystic kidney disease1 test
Autosomal recessive Robinow syndrome1 test
Axenfeld-Rieger syndrome type 13 tests
Azorean disease1 test
Bardet-Biedl syndrome4 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
Bartter disease type 4B1 test
Bartter syndrome1 test
Beaded hair2 tests
Becker muscular dystrophy1 test
Beckwith-Wiedemann syndrome3 tests
Benign neonatal seizures4 tests
Benign recurrent intrahepatic cholestasis type 21 test
Benign Rolandic epilepsy1 test
beta Thalassemia1 test
Bethlem myopathy 1A3 tests
Bicuspid aortic valve1 test
Bifunctional peroxisomal enzyme deficiency1 test
Bilateral frontoparietal polymicrogyria1 test
Biotin-responsive basal ganglia disease1 test
Biotinidase deficiency1 test
Birt-Hogg-Dube syndrome1 test
Blau syndrome1 test
Blepharophimosis, ptosis, and epicanthus inversus syndrome1 test
Bloom syndrome1 test
Borjeson-Forssman-Lehmann syndrome1 test
Brachydactyly type B21 test
Brachydactyly type E12 tests
Brachydactyly-elbow wrist dysplasia syndrome1 test
Brachyrachia (short spine dysplasia)1 test
Brain small vessel disease 1 with or without ocular anomalies1 test
Branchiooculofacial syndrome1 test
Branchiootorenal syndrome 12 tests
Breast-ovarian cancer, familial, susceptibility to, 11 test
Breast-ovarian cancer, familial, susceptibility to, 21 test
Breast-ovarian cancer, familial, susceptibility to, 31 test
Bruck syndrome 21 test
Brugada syndrome 11 test
Brugada syndrome 21 test
Brugada syndrome 31 test
Brugada syndrome 41 test
Brugada syndrome 51 test
Brugada syndrome 61 test
Brugada syndrome 71 test
Brugada syndrome 81 test
C syndrome2 tests
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1 test
Camptomelic dysplasia3 tests
CARASIL syndrome1 test
Cardiac arrhythmia, ankyrin-B-related1 test
Cardiofaciocutaneous syndrome 11 test
Carney complex, type 11 test
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyltransferase II deficiency1 test
Cataract 11 multiple types1 test
Cataract 181 test
Cataract 401 test
Catecholaminergic polymorphic ventricular tachycardia 11 test
Catecholaminergic polymorphic ventricular tachycardia 21 test
CBL-related disorder1 test
Central core myopathy1 test
Cerebral amyloid angiopathy3 tests
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Cerebral cavernous malformation2 tests
Cerebral cavernous malformation 21 test
Cerebral cavernous malformation 31 test
Cerebral folate transport deficiency1 test
Cerebroretinal microangiopathy with calcifications and cysts 11 test
Ceroid lipofuscinosis, neuronal, 6A2 tests
CFHR5 deficiency1 test
Char syndrome1 test
Charcot-Marie-Tooth disease axonal type 2C1 test
Charcot-Marie-Tooth disease axonal type 2F1 test
Charcot-Marie-Tooth disease axonal type 2K2 tests
Charcot-Marie-Tooth disease axonal type 2L2 tests
Charcot-Marie-Tooth disease axonal type 2N2 tests
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 type 1B1 test
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1D1 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 4C1 test
Charcot-Marie-Tooth disease type 4D1 test
Charcot-Marie-Tooth disease type 4E3 tests
Charcot-Marie-Tooth disease type 4F1 test
Charcot-Marie-Tooth disease X-linked dominant 11 test
Charcot-Marie-Tooth disease X-linked recessive 51 test
Charcot-Marie-Tooth disease, type IA1 test
CHARGE syndrome1 test
Charlevoix-Saguenay spastic ataxia1 test
Child syndrome1 test
Childhood hypophosphatasia1 test
Childhood onset GLUT1 deficiency syndrome 21 test
Cholestanol storage disease1 test
Chondrodysplasia punctata 2 X-linked dominant1 test
Chorea, benign familial1 test
Chorea-acanthocytosis1 test
Choroideremia1 test
Chromosome 1q41-q42 deletion syndrome1 test
Chronic granulomatous disease3 tests
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chudley-McCullough syndrome1 test
Chédiak-Higashi syndrome1 test
Citrullinemia type I1 test
Citrullinemia type II1 test
CK syndrome1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
Classic homocystinuria1 test
Cleidocranial dysostosis2 tests
Cobalamin C disease1 test
Cockayne syndrome type 11 test
Cockayne syndrome type 21 test
Coffin-Lowry syndrome1 test
Coffin-Siris syndrome 12 tests
Cohen syndrome2 tests
Colorectal cancer, hereditary nonpolyposis, type 22 tests
Combined immunodeficiency due to DOCK8 deficiency2 tests
Combined PSAP deficiency1 test
Common variable immunodeficiency1 test
Complement component 3 deficiency1 test
Complement factor b deficiency1 test
Complete androgen insensitivity syndrome1 test
Cone dystrophy 31 test
Cone dystrophy 41 test
Congenital adrenal hyperplasia2 tests
Congenital adrenal hypoplasia, X-linked2 tests
Congenital afibrinogenemia3 tests
Congenital amegakaryocytic thrombocytopenia1 test
Congenital chromosomal disease1 test
Congenital contractural arachnodactyly1 test
Congenital diarrhea 5 with tufting enteropathy1 test
Congenital dyserythropoietic anemia, type I1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital fibrosis of extraocular muscles1 test
Congenital generalized lipodystrophy type 11 test
Congenital generalized lipodystrophy type 21 test
Congenital glucose-galactose malabsorption1 test
Congenital hereditary endothelial dystrophy of cornea1 test
Congenital lactase deficiency1 test
Congenital malabsorptive diarrhea 41 test
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myasthenic syndrome 101 test
Congenital myasthenic syndrome 111 test
Congenital myasthenic syndrome 4B1 test
Congenital myasthenic syndrome 51 test
Congenital myasthenic syndrome 81 test
Congenital myopathy 231 test
Congenital myopathy 4B, autosomal recessive1 test
Congenital myopathy with fiber type disproportion3 tests
Congenital myotonia, autosomal dominant form1 test
Congenital secretory diarrhea, chloride type1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Cornelia de Lange syndrome 11 test
Cornelia de Lange syndrome 31 test
Corticosterone 18-monooxygenase deficiency1 test
Costello syndrome1 test
Cowden syndrome2 tests
Craniofrontonasal syndrome1 test
Craniometadiaphyseal dysplasia wormian bone type1 test
Craniosynostosis 21 test
Creatine transporter deficiency1 test
Crigler-Najjar syndrome1 test
Crouzon syndrome1 test
Crouzon syndrome-acanthosis nigricans syndrome1 test
Currarino triad1 test
Cutis laxa with osteodystrophy1 test
Cutis laxa, autosomal dominant 11 test
Cutis laxa, autosomal recessive, type 1A1 test
Cutis laxa, autosomal recessive, type 1B1 test
Cyclical neutropenia1 test
Cystic fibrosis2 tests
Cystinuria2 tests
D-2-hydroxyglutaric aciduria 11 test
De Lange syndrome1 test
Deafness dystonia syndrome2 tests
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of alpha-mannosidase1 test
Deficiency of butyryl-CoA dehydrogenase3 tests
Deficiency of butyrylcholinesterase1 test
Deficiency of ferroxidase2 tests
Deficiency of galactokinase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of iodide peroxidase1 test
Deficiency of isobutyryl-CoA dehydrogenase1 test
Deficiency of steroid 17-alpha-monooxygenase2 tests
Dejerine-Sottas disease2 tests
Dent disease1 test
Dentatorubral-pallidoluysian atrophy1 test
Dentinogenesis imperfecta type 21 test
Desbuquois dysplasia 11 test
Desmin-related myofibrillar myopathy1 test
Developmental and epileptic encephalopathy, 122 tests
Developmental and epileptic encephalopathy, 131 test
Developmental and epileptic encephalopathy, 21 test
Developmental and epileptic encephalopathy, 42 tests
Developmental and epileptic encephalopathy, 91 test
Developmental anomaly of metabolic origin1 test
Developmental delay1 test
Developmental malformations-deafness-dystonia syndrome1 test
Diabetes insipidus, nephrogenic, autosomal1 test
Diabetes insipidus, nephrogenic, X-linked1 test
Diabetes mellitus type 11 test
Diabetes mellitus, transient neonatal, 11 test
Diabetes mellitus, transient neonatal, 21 test
Diabetes mellitus, transient neonatal, 31 test
Diamond-Blackfan anemia2 tests
Diamond-Blackfan anemia 11 test
Diamond-Blackfan anemia 101 test
Diamond-Blackfan anemia 31 test
Diamond-Blackfan anemia 41 test
Diamond-Blackfan anemia 51 test
Diamond-Blackfan anemia 61 test
Diamond-Blackfan anemia 72 tests
Diamond-Blackfan anemia 92 tests
Diastrophic dysplasia1 test
DiGeorge syndrome1 test
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1D1 test
Dilated cardiomyopathy 1E1 test
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1HH1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1J1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1U1 test
Dilated cardiomyopathy 1V1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 3B1 test
Distal arthrogryposis type 2B11 test
Distichiasis-lymphedema syndrome1 test
Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
Doyne honeycomb retinal dystrophy1 test
Duane-radial ray syndrome1 test
Dubin-Johnson syndrome2 tests
Duchenne muscular dystrophy1 test
Dyskeratosis congenita, autosomal dominant 11 test
Dyskeratosis congenita, autosomal dominant 21 test
Dyskeratosis congenita, autosomal dominant 31 test
Dyskeratosis congenita, X-linked2 tests
Dystonia 161 test
Dystonia 52 tests
Dystonia 91 test
Early-onset generalized limb-onset dystonia1 test
EAST syndrome1 test
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectopia lentis 1, isolated, autosomal dominant1 test
Ectopia lentis et pupillae1 test
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
EEM syndrome1 test
Ehlers-Danlos syndrome, cardiac valvular type1 test
Ehlers-Danlos syndrome, classic type4 tests
Ehlers-Danlos syndrome, dermatosparaxis type1 test
Ehlers-Danlos syndrome, kyphoscoliotic type 12 tests
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, type 34 tests
Ehlers-Danlos syndrome, type 41 test
Elliptocytosis 11 test
Elliptocytosis 21 test
Elliptocytosis 31 test
Ellis-van Creveld syndrome1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant3 tests
Epidermodysplasia verruciformis, susceptibility to, 12 tests
Epidermolysis bullosa simplex1 test
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive2 tests
Epidermolysis bullosa simplex 5B, with muscular dystrophy1 test
Epidermolysis bullosa simplex with mottled pigmentation1 test
Epidermolytic ichthyosis2 tests
Epilepsy1 test
Epilepsy, familial temporal lobe, 11 test
Epiphyseal dysplasia, multiple, 21 test
Epiphyseal dysplasia, multiple, 31 test
Epiphyseal dysplasia, multiple, 61 test
Episodic ataxia type 12 tests
Episodic ataxia type 22 tests
Episodic ataxia type 51 test
Episodic ataxia type 61 test
Episodic kinesigenic dyskinesia 12 tests
Erythrokeratodermia variabilis et progressiva 11 test
Essential hypertension1 test
Ethylmalonic encephalopathy1 test
Exostoses, multiple, type 21 test
Exudative retinopathy1 test
Exudative vitreoretinopathy 2, X-linked1 test
Exudative vitreoretinopathy 41 test
Fabry disease2 tests
Factor H deficiency1 test
Factor VII deficiency1 test
Factor XII deficiency disease1 test
Factor XIII, A subunit, deficiency of1 test
Factor XIII, b subunit, deficiency of1 test
Familial acute necrotizing encephalopathy1 test
Familial adenomatous polyposis 11 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial apolipoprotein C-II deficiency1 test
Familial cancer of breast1 test
Familial cold autoinflammatory syndrome 11 test
Familial cold autoinflammatory syndrome 21 test
Familial dysautonomia1 test
Familial erythrocytosis1 test
Familial exudative vitreoretinopathy2 tests
Familial hemophagocytic lymphohistiocytosis 21 test
Familial hemophagocytic lymphohistiocytosis 31 test
Familial hemophagocytic lymphohistiocytosis 41 test
Familial hemophagocytic lymphohistiocytosis 51 test
Familial hyperaldosteronism type III1 test
Familial hyperinsulinism1 test
Familial hyperthyroidism due to mutations in TSH receptor1 test
Familial hypobetalipoproteinemia2 tests
Familial hypocalciuric hypercalcemia1 test
Familial hypokalemia-hypomagnesemia1 test
Familial infantile myasthenia1 test
Familial isolated deficiency of vitamin E1 test
Familial juvenile hyperuricemic nephropathy type 12 tests
Familial Mediterranean fever1 test
Familial medullary thyroid carcinoma2 tests
Familial porphyria cutanea tarda1 test
Familial prostate cancer1 test
Familial pulmonary capillary hemangiomatosis1 test
Familial renal glucosuria1 test
Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
Fanconi anemia complementation group A1 test
Fanconi anemia complementation group B1 test
Fanconi anemia complementation group C1 test
Fanconi anemia complementation group G1 test
Fanconi-Bickel syndrome1 test
Fatal familial insomnia1 test
Feingold syndrome1 test
Fetal akinesia-cerebral and retinal hemorrhage syndrome1 test
FG syndrome 11 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 71 test
Follicular lymphoma, susceptibility to, 11 test
Fragile X syndrome1 test
Fragile X-associated tremor/ataxia syndrome1 test
Fraser syndrome 12 tests
Freeman-Sheldon syndrome2 tests
Friedreich ataxia2 tests
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
Frontonasal dysplasia with alopecia and genital anomaly1 test
Frontorhiny1 test
Frontotemporal dementia3 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 72 tests
Fructose-biphosphatase deficiency1 test
Fumarase deficiency2 tests
G6PD deficiency1 test
Galactosylceramide beta-galactosidase deficiency1 test
Gastrointestinal stromal tumor1 test
Gaucher disease perinatal lethal1 test
Gaucher disease type II1 test
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1 test
Gaze palsy, familial horizontal, with progressive scoliosis 11 test
Geleophysic dysplasia 11 test
Gemcitabine response1 test
Generalized dominant dystrophic epidermolysis bullosa1 test
Generalized epilepsy with febrile seizures plus 31 test
Generalized epilepsy with febrile seizures plus type 51 test
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized epilepsy with febrile seizures plus, type 21 test
Generalized epilepsy with febrile seizures plus, type 71 test
Generalized juvenile polyposis/juvenile polyposis coli2 tests
Genitopatellar syndrome2 tests
Gerstmann-Straussler-Scheinker syndrome1 test
Giant axonal neuropathy 11 test
Gilbert syndrome1 test
Glanzmann thrombasthenia2 tests
Glaucoma 1, open angle, A1 test
Glaucoma 1, open angle, G1 test
Glaucoma 3, primary infantile, B1 test
Glucocorticoid resistance1 test
Glucocorticoid-remediable aldosteronism1 test
Glucose-6-phosphate transport defect1 test
Glutaric aciduria, type 11 test
Glycogen phosphorylase kinase deficiency1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease due to muscle beta-enolase deficiency1 test
Glycogen storage disease IXb1 test
Glycogen storage disease IXd1 test
Glycogen storage disease type III1 test
Glycogen storage disease type X1 test
Glycogen storage disease, type I1 test
Glycogen storage disease, type II1 test
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V1 test
Glycogen storage disease, type VI1 test
Glycogen storage disease, type VII1 test
Gorlin syndrome1 test
Griscelli syndrome type 11 test
Growth delay due to insulin-like growth factor type 1 deficiency1 test
H syndrome1 test
Haddad syndrome1 test
Hajdu-Cheney syndrome1 test
Hb SS disease1 test
Hecht syndrome1 test
Hemochromatosis type 11 test
Hemochromatosis type 31 test
Hemochromatosis type 41 test
Hemochromatosis type 51 test
Hemolytic anemia due to hexokinase deficiency1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
Hemorrhage, intracerebral, susceptibility to2 tests
Hepatic methionine adenosyltransferase deficiency1 test
Hereditary acrodermatitis enteropathica2 tests
Hereditary amyloidosis1 test
Hereditary angioneurotic edema2 tests
Hereditary coproporphyria1 test
Hereditary diffuse gastric adenocarcinoma1 test
Hereditary diffuse leukoencephalopathy with spheroids1 test
Hereditary factor IX deficiency disease1 test
Hereditary factor VIII deficiency disease1 test
Hereditary fructosuria1 test
Hereditary hyperferritinemia with congenital cataracts1 test
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary liability to pressure palsies1 test
Hereditary lymphedema type I1 test
Hereditary myopathy with lactic acidosis due to ISCU deficiency1 test
Hereditary pancreatitis3 tests
Hereditary sensory and autonomic neuropathy type 11 test
Hereditary spastic paraplegia 101 test
Hereditary spastic paraplegia 111 test
Hereditary spastic paraplegia 121 test
Hereditary spastic paraplegia 131 test
Hereditary spastic paraplegia 21 test
Hereditary spastic paraplegia 301 test
Hereditary spastic paraplegia 351 test
Hereditary spastic paraplegia 391 test
Hereditary spastic paraplegia 3A1 test
Hereditary spastic paraplegia 41 test
Hereditary spastic paraplegia 511 test
Hereditary spastic paraplegia 5A1 test
Hereditary spastic paraplegia 61 test
Hereditary spastic paraplegia 71 test
Hereditary spastic paraplegia 81 test
Hereditary spherocytosis type 11 test
Hereditary spherocytosis type 21 test
Hereditary spherocytosis type 31 test
Hereditary spherocytosis type 41 test
Hereditary spherocytosis type 51 test
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
Hereditary xanthinuria type 11 test
Hermansky-Pudlak syndrome1 test
Heterotaxy, visceral, 1, X-linked1 test
Heterotaxy, visceral, 2, autosomal1 test
Heterotaxy, visceral, 4, autosomal1 test
Heterotaxy, visceral, 5, autosomal1 test
Heterotopia, periventricular, X-linked dominant1 test
Hidrotic ectodermal dysplasia syndrome1 test
Histiocytic medullary reticulosis3 tests
Holoprosencephaly 111 test
Holoprosencephaly 21 test
Holoprosencephaly 31 test
Holoprosencephaly 41 test
Holoprosencephaly 51 test
Holoprosencephaly 71 test
Holoprosencephaly 81 test
Holoprosencephaly 91 test
Holoprosencephaly sequence5 tests
Holt-Oram syndrome1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Huntington disease1 test
Huntington disease-like 11 test
Hyaline fibromatosis syndrome1 test
Hydatidiform mole, recurrent, 11 test
Hydatidiform mole, recurrent, 21 test
Hydrolethalus syndrome 11 test
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1 test
Hyper-IgM syndrome type 11 test
Hyper-IgM syndrome type 21 test
Hypercholesterolemia, autosomal dominant, 31 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hypercholesterolemia, familial, 11 test
Hypercholesterolemia, familial, 41 test
Hyperekplexia 11 test
Hyperekplexia 21 test
Hyperekplexia 31 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperinsulinemic hypoglycemia, familial, 11 test
Hyperinsulinism-hyperammonemia syndrome1 test
Hyperlipoproteinemia, type I2 tests
Hyperparathyroidism 2 with jaw tumors1 test
Hyperprolinemia type 21 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertriglyceridemia 13 tests
Hypertrophic cardiomyopathy 251 test
Hypertrophic cardiomyopathy 61 test
Hypochondroplasia1 test
Hypogonadotropic hypogonadism 1 with or without anosmia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia1 test
Hypogonadotropic hypogonadism 4 with or without anosmia1 test
Hypogonadotropic hypogonadism 5 with or without anosmia1 test
Hypogonadotropic hypogonadism 7 with or without anosmia1 test
Hypohidrotic X-linked ectodermal dysplasia1 test
Hypokalemic periodic paralysis, type 11 test
Hypokalemic periodic paralysis, type 21 test
Hypomyelinating leukodystrophy 21 test
Hypomyelinating leukodystrophy 41 test
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1 test
Hypomyelination and Congenital Cataract1 test
Hypoparathyroidism, deafness, renal disease syndrome1 test
Hypoparathyroidism-retardation-dysmorphism syndrome1 test
Hypoplastic left heart syndrome 11 test
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
Ichthyosis bullosa of Siemens1 test
Ichthyosis vulgaris1 test
IFAP syndrome 1, with or without BRESHECK syndrome1 test
Incontinentia pigmenti syndrome1 test
Infantile GM1 gangliosidosis1 test
Infantile neuroaxonal dystrophy1 test
Inflammatory bowel disease 11 test
Inflammatory skin and bowel disease, neonatal, 21 test
Inherited Creutzfeldt-Jakob disease1 test
Inherited glutathione synthetase deficiency1 test
Intellectual disability, autosomal dominant 142 tests
Intellectual disability, autosomal dominant 161 test
Intellectual disability, autosomal dominant 51 test
Intellectual disability, X-linked, with or without seizures, arx-related1 test
Intellectual disability, X-linked, with panhypopituitarism1 test
Interstitial lung disease 21 test
Interstitial lung disease due to ABCA3 deficiency1 test
Intestinal hypomagnesemia 11 test
Irido-corneo-trabecular dysgenesis2 tests
Isolated congenital digital clubbing1 test
Isolated focal cortical dysplasia type II1 test
Isolated growth hormone deficiency type IB1 test
Isolated microphthalmia 21 test
Isolated microphthalmia 51 test
Isolated microphthalmia 61 test
Isolated microphthalmia 71 test
Isovaleryl-CoA dehydrogenase deficiency1 test
Johanson-Blizzard syndrome1 test
Joubert syndrome 11 test
Joubert syndrome 101 test
Joubert syndrome 121 test
Joubert syndrome 21 test
Joubert syndrome 31 test
Joubert syndrome 51 test
Joubert syndrome 61 test
Joubert syndrome 71 test
Joubert syndrome 81 test
Joubert syndrome 91 test
Joubert syndrome with renal defect2 tests
Junctional epidermolysis bullosa1 test
Junctional epidermolysis bullosa gravis of Herlitz3 tests
Junctional epidermolysis bullosa with pyloric atresia1 test
Junctional epidermolysis bullosa, non-Herlitz type4 tests
Juvenile myoclonic epilepsy2 tests
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke2 tests
Juvenile retinoschisis1 test
Kabuki syndrome2 tests
Kabuki syndrome 11 test
Kartagener syndrome1 test
Kennedy disease2 tests
Keratosis follicularis1 test
Keratosis palmoplantaris striata 21 test
Keratosis palmoplantaris striata 31 test
Klippel-Feil syndrome 1, autosomal dominant1 test
Klippel-Feil syndrome 2, autosomal recessive1 test
Koolen-de Vries syndrome1 test
Kostmann syndrome2 tests
Kufor-Rakeb syndrome1 test
Laron-type isolated somatotropin defect1 test
Larsen syndrome1 test
LCAT deficiency1 test
Leber congenital amaurosis3 tests
Leber congenital amaurosis 11 test
Leber congenital amaurosis 131 test
Leber congenital amaurosis 141 test
Leber congenital amaurosis 21 test
Leber congenital amaurosis 91 test
Leber optic atrophy1 test
Left-right axis malformations1 test
Legius syndrome1 test
Leigh syndrome1 test
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
Leprechaunism syndrome1 test
Leri-Weill dyschondrosteosis1 test
Lesch-Nyhan syndrome1 test
Lethal congenital contracture syndrome 11 test
Lethal multiple pterygium syndrome3 tests
Leukocyte adhesion deficiency 11 test
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
Leydig cell agenesis1 test
Li-Fraumeni syndrome 11 test
Liddle syndrome 12 tests
Lissencephaly 41 test
Lissencephaly due to LIS1 mutation1 test
Lissencephaly type 1 due to doublecortin gene mutation2 tests
Loeys-Dietz syndrome 13 tests
Loeys-Dietz syndrome 23 tests
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
Long QT syndrome 13 tests
Long QT syndrome 101 test
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 131 test
Long QT syndrome 21 test
Long QT syndrome 32 tests
Long QT syndrome 52 tests
Long QT syndrome 62 tests
Long QT syndrome 91 test
Loricrin keratoderma1 test
Lowe syndrome1 test
Lung carcinoma2 tests
Lynch syndrome 13 tests
Lynch syndrome 51 test
Lynch syndrome 81 test
Lysosomal acid lipase deficiency2 tests
Macrocephaly and epileptic encephalopathy1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Malan overgrowth syndrome1 test
Malignant hyperthermia of anesthesia1 test
Mantle cell lymphoma1 test
Maple syrup urine disease2 tests
Marfan syndrome2 tests
Marinesco-Sjögren syndrome1 test
Marshall syndrome1 test
Marshall-Smith syndrome1 test
Matthew-Wood syndrome1 test
Maturity-onset diabetes of the young type 11 test
Maturity-onset diabetes of the young type 21 test
Maturity-onset diabetes of the young type 31 test
McCune-Albright syndrome1 test
McKusick-Kaufman syndrome1 test
McLeod neuroacanthocytosis syndrome1 test
Meckel syndrome, type 11 test
Meckel syndrome, type 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
Megalencephalic leukoencephalopathy with subcortical cysts1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
Meier-Gorlin syndrome 11 test
Melanoma, cutaneous malignant, susceptibility to, 21 test
Melanoma, cutaneous malignant, susceptibility to, 31 test
Melorheostosis1 test
Menkes kinky-hair syndrome1 test
Merosin deficient congenital muscular dystrophy2 tests
MERRF syndrome1 test
Metabolic disease1 test
Metabolic myopathy1 test
Metachromatic leukodystrophy1 test
Metaphyseal chondrodysplasia, McKusick type1 test
Metaphyseal chondrodysplasia, Schmid type1 test
Metaphyseal dysplasia without hypotrichosis1 test
Methylcobalamin deficiency type cblE1 test
Methylcobalamin deficiency type cblG1 test
Methylcrotonyl-CoA carboxylase deficiency1 test
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1 test
Methylmalonic aciduria and homocystinuria type cblD1 test
Methylmalonic aciduria and homocystinuria type cblF1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2 tests
Methylmalonic aciduria, cblA type2 tests
Methylmalonic aciduria, cblB type2 tests
MHC class II deficiency4 tests
Microcephalic osteodysplastic primordial dwarfism type II1 test
Microcephaly 1, primary, autosomal recessive1 test
Microcephaly 5, primary, autosomal recessive1 test
Microcephaly, normal intelligence and immunodeficiency2 tests
Microcytic anemia1 test
Microphthalmia, isolated, with coloboma 31 test
Microphthalmia, syndromic 11 test
Migraine, familial hemiplegic, 11 test
Migraine, familial hemiplegic, 21 test
Migraine, familial hemiplegic, 31 test
Mismatch repair cancer syndrome 12 tests
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
Mitochondrial non-syndromic sensorineural hearing loss5 tests
Mitochondrial trifunctional protein deficiency1 test
Miyoshi muscular dystrophy 11 test
Mowat-Wilson syndrome1 test
MPI-congenital disorder of glycosylation1 test
Mucopolysaccharidosis type 61 test
Mucopolysaccharidosis type 71 test
Mucopolysaccharidosis, MPS-I-H/S1 test
Mucopolysaccharidosis, MPS-II1 test
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-III-C1 test
Mucopolysaccharidosis, MPS-III-D1 test
Mucopolysaccharidosis, MPS-IV-A1 test
Mucopolysaccharidosis, MPS-IV-B1 test
Muenke syndrome1 test
Muir-Torré syndrome1 test
Mullerian aplasia and hyperandrogenism1 test
Multiple acyl-CoA dehydrogenase deficiency3 tests
Multiple congenital exostosis1 test
Multiple endocrine neoplasia type 2A1 test
Multiple endocrine neoplasia type 2B1 test
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 11 test
Multiple epiphyseal dysplasia type 13 tests
Multiple epiphyseal dysplasia type 41 test
Multiple epiphyseal dysplasia type 51 test
Multiple synostoses syndrome 31 test
Muscle AMP deaminase deficiency1 test
Muscle eye brain disease1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A15 tests
Muscular dystrophy-dystroglycanopathy type B51 test
Muscular dystrophy-dystroglycanopathy type B61 test
Myoclonic dystonia 112 tests
Myofibrillar myopathy 32 tests
Myofibrillar myopathy 51 test
Myoglobinuria, acute recurrent, autosomal recessive1 test
Myopathy, centronuclear, 21 test
Myotonic dystrophy type 21 test
Nail-patella syndrome1 test
NARP syndrome1 test
Nemaline myopathy 21 test
Nemaline myopathy 51 test
Nemaline myopathy 61 test
Nemaline myopathy 71 test
Nephronophthisis 41 test
Nephronophthisis 71 test
Nephronophthisis 91 test
Nephropathic cystinosis2 tests
Nephrotic syndrome, type 23 tests
Nephrotic syndrome, type 31 test
Neural tube defect1 test
Neuroblastoma, susceptibility to, 31 test
Neurofibromatosis, type 11 test
Neurofibromatosis, type 21 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 72 tests
Neuronal ceroid lipofuscinosis 81 test
Neuronopathy, distal hereditary motor, type 5A1 test
Neuropathy, hereditary sensory and autonomic, type 1C1 test
Neutropenia, severe congenital, 1, autosomal dominant2 tests
Neutropenia, severe congenital, 2, autosomal dominant1 test
Nicolaides-Baraitser syndrome1 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C1 test
Niemann-Pick disease, type C21 test
Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
Non-ketotic hyperglycinemia3 tests
Non-syndromic intellectual disability1 test
Non-syndromic X-linked intellectual disability1 test
Nonpersistence of intestinal lactase1 test
Noonan syndrome 11 test
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 61 test
Noonan syndrome 71 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Norman-Roberts syndrome1 test
Nystagmus 1, congenital, X-linked1 test
Nystagmus 6, congenital, X-linked1 test
Obesity5 tests
OBESITY (BMIQ9), SUSCEPTIBILITY TO1 test
Obesity due to congenital leptin deficiency1 test
Obesity due to leptin receptor gene deficiency1 test
Ocular albinism with congenital sensorineural hearing loss2 tests
Ocular albinism, type I1 test
Oculocutaneous albinism type 11 test
Oculocutaneous albinism type 1B1 test
Oculopharyngeal muscular dystrophy1 test
Oguchi disease1 test
Oguchi disease-21 test
Optic atrophy 31 test
Ornithine carbamoyltransferase deficiency1 test
Orofacial cleft 111 test
Oroticaciduria1 test
Osteodysplastic primordial dwarfism, type 11 test
Osteogenesis imperfecta2 tests
Osteogenesis imperfecta type 71 test
Osteogenesis imperfecta type 81 test
Osteogenesis imperfecta type 91 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III2 tests
Osteopathia striata with cranial sclerosis2 tests
Osteopetrosis with renal tubular acidosis1 test
Oto-palato-digital syndrome, type II1 test
Otofaciocervical syndrome 11 test
Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
Ovarian dysgenesis 11 test
Ovarian dysgenesis 21 test
Ovarian neoplasm1 test
Pachyonychia congenita 11 test
Pachyonychia congenita 21 test
Pachyonychia congenita 31 test
Pachyonychia congenita 41 test
Pallister-Hall syndrome1 test
Palmoplantar keratoderma i, striate, focal, or diffuse1 test
Palmoplantar keratoderma, epidermolytic4 tests
Palmoplantar keratoderma, nonepidermolytic, focal 11 test
Pancreatic insufficiency-anemia-hyperostosis syndrome1 test
Pancreatic triacylglycerol lipase deficiency1 test
Papillary renal cell carcinoma type 11 test
Papillon-Lefèvre syndrome1 test
Paragangliomas 11 test
Paragangliomas 31 test
Paragangliomas 41 test
Paramyotonia congenita of Von Eulenburg1 test
Parkes Weber syndrome1 test
Paroxysmal nocturnal hemoglobinuria1 test
Paroxysmal nonkinesigenic dyskinesia 11 test
Partington syndrome1 test
Pelizaeus-Merzbacher disease1 test
Pendred syndrome1 test
Permanent neonatal diabetes mellitus2 tests
Peroxisome biogenesis disorder2 tests
Peroxisome biogenesis disorder 10A (Zellweger)3 tests
Peroxisome biogenesis disorder 11A (Zellweger)3 tests
Peroxisome biogenesis disorder 11B1 test
Peroxisome biogenesis disorder 12A (Zellweger)3 tests
Peroxisome biogenesis disorder 13A (Zellweger)3 tests
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorder 2A (Zellweger)3 tests
Peroxisome biogenesis disorder 2B1 test
Peroxisome biogenesis disorder 3A (Zellweger)3 tests
Peroxisome biogenesis disorder 4A (Zellweger)1 test
Peroxisome biogenesis disorder 4B1 test
Peroxisome biogenesis disorder 5A (Zellweger)3 tests
Peroxisome biogenesis disorder 5B1 test
Peroxisome biogenesis disorder 6A (Zellweger)3 tests
Peroxisome biogenesis disorder 6B1 test
Peroxisome biogenesis disorder 7A (Zellweger)3 tests
Peroxisome biogenesis disorder 7B1 test
Peroxisome biogenesis disorder 8A (Zellweger)3 tests
Peroxisome biogenesis disorder 8B1 test
Peroxisome biogenesis disorder type 3B1 test
Persistent Mullerian duct syndrome2 tests
Peters plus syndrome1 test
Peutz-Jeghers syndrome1 test
Phelan-McDermid syndrome1 test
Phenylketonuria1 test
Phosphoenolpyruvate carboxykinase (GTP) deficiency1 test
Pierson syndrome1 test
Pigmentary pallidal degeneration1 test
Pigmented nodular adrenocortical disease, primary, 21 test
Pigmented nodular adrenocortical disease, primary, 31 test
Pitt-Hopkins syndrome1 test
Pituitary hormone deficiency, combined, 11 test
Pituitary hormone deficiency, combined, 21 test
PMM2-congenital disorder of glycosylation1 test
Polycystic kidney disease 21 test
Polycystic kidney disease, adult type1 test
Polycystic liver disease 12 tests
Polyglandular autoimmune syndrome, type 11 test
Polymorphous corneal dystrophy1 test
Pontocerebellar hypoplasia type 21 test
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 41 test
Prader-Willi syndrome2 tests
Premature ovarian failure 11 test
Primary ciliary dyskinesia2 tests
Primary ciliary dyskinesia 33 tests
Primary dilated cardiomyopathy2 tests
Primary erythromelalgia1 test
Primary hyperoxaluria type 31 test
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Primary hypomagnesemia1 test
Primary myelofibrosis1 test
Primary open angle glaucoma2 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41 test
Progressive familial intrahepatic cholestasis type 11 test
Progressive familial intrahepatic cholestasis type 31 test
Progressive myoclonic epilepsy type 31 test
Progressive myositis ossificans1 test
Progressive pseudorheumatoid dysplasia1 test
Proline dehydrogenase deficiency1 test
Propionic acidemia2 tests
Protoporphyria, erythropoietic, 11 test
Pseudo-Hurler polydystrophy1 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
Pseudohypoaldosteronism, type IB1, autosomal recessive3 tests
Pseudohypoparathyroidism1 test
Pseudohypoparathyroidism type 1B1 test
Pseudohypoparathyroidism type 1C1 test
Pseudopseudohypoparathyroidism1 test
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency1 test
Pulmonary alveolar proteinosis1 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 11 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 21 test
Pulmonary hypertension, primary, 11 test
Pulmonary venoocclusive disease 11 test
Purine-nucleoside phosphorylase deficiency1 test
Pyknodysostosis1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyridoxine-dependent epilepsy1 test
Pyruvate carboxylase deficiency1 test
Reis-Bucklers' corneal dystrophy1 test
Renal coloboma syndrome1 test
Renal cysts and diabetes syndrome1 test
Renal-hepatic-pancreatic dysplasia 11 test
Reticular dysgenesis1 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
Retinitis pigmentosa 21 test
Retinitis pigmentosa 201 test
Retinitis pigmentosa 371 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Retinoblastoma1 test
Rett syndrome2 tests
Rett syndrome, congenital variant1 test
Rhizomelic chondrodysplasia punctata1 test
Rieger anomaly4 tests
Rippling muscle disease 21 test
Roberts-SC phocomelia syndrome1 test
Rothmund-Thomson syndrome1 test
Rotor syndrome2 tests
Rubinstein-Taybi syndrome due to CREBBP mutations1 test
Sacral defect with anterior meningocele1 test
Saethre-Chotzen syndrome1 test
Sandhoff disease1 test
Schinzel-Giedion syndrome1 test
Schizophrenia2 tests
Schwannomatosis 11 test
Schwartz-Jampel syndrome1 test
Sclerosteosis 11 test
Seckel syndrome 11 test
Seizures, benign familial infantile, 21 test
Seizures, benign familial neonatal, 21 test
Septo-optic dysplasia sequence1 test
Severe early-childhood-onset retinal dystrophy1 test
Severe myoclonic epilepsy in infancy4 tests
Severe X-linked myotubular myopathy1 test
Short QT syndrome type 31 test
Short stature due to partial GHR deficiency2 tests
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
Shwachman-Diamond syndrome 11 test
Sialidosis type 21 test
Silver-Russell syndrome 11 test
Simpson-Golabi-Behmel syndrome type 11 test
Sitosterolemia2 tests
Sjögren-Larsson syndrome1 test
Smith-Lemli-Opitz syndrome1 test
Smith-Magenis syndrome1 test
Sorsby fundus dystrophy1 test
Sotos syndrome1 test
Southeast Asian ovalocytosis1 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 12 tests
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 121 test
Spinocerebellar ataxia type 141 test
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 181 test
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 361 test
Spinocerebellar ataxia type 51 test
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia type 81 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
Spondylocostal dysostosis 1, autosomal recessive2 tests
Spondylocostal dysostosis 2, autosomal recessive2 tests
Spondylocostal dysostosis 3, autosomal recessive2 tests
Spondylocostal dysostosis 4, autosomal recessive2 tests
Spondyloenchondrodysplasia with immune dysregulation1 test
Spondyloepiphyseal dysplasia congenita2 tests
Spondyloepiphyseal dysplasia tarda2 tests
Spondyloepiphyseal dysplasia with congenital joint dislocations1 test
Spongy degeneration of central nervous system1 test
Stargardt disease 31 test
Steatocystoma multiplex1 test
Steinert myotonic dystrophy syndrome1 test
Stickler syndrome type 11 test
Stickler syndrome type 21 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Succinyl-CoA acetoacetate transferase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
Supravalvar aortic stenosis1 test
Surfactant metabolism dysfunction, pulmonary, 11 test
Surfactant metabolism dysfunction, pulmonary, 22 tests
Syndromic X-linked intellectual disability Hedera type1 test
Syndromic X-linked intellectual disability Snyder type1 test
Systemic lupus erythematosus1 test
T-B+ severe combined immunodeficiency due to JAK3 deficiency2 tests
Tangier disease1 test
Tay-Sachs disease1 test
Tay-Sachs disease, variant AB1 test
Telangiectasia, hereditary hemorrhagic, type 12 tests
Telangiectasia, hereditary hemorrhagic, type 22 tests
Thanatophoric dysplasia, type 21 test
Thiopurine S-methyltransferase deficiency1 test
Thrombocythemia 31 test
Thrombocytopenia 11 test
Thrombomodulin-related bleeding disorder1 test
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to protein C deficiency, autosomal dominant1 test
Thrombophilia due to thrombin defect2 tests
Thyroid hormone resistance, generalized, autosomal dominant1 test
Tietz syndrome1 test
Timothy syndrome2 tests
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Torsion dystonia 61 test
Tourette syndrome1 test
Townes-Brocks syndrome 11 test
Transcobalamin II deficiency1 test
Treacher Collins syndrome 11 test
Treacher Collins syndrome 21 test
Treacher Collins syndrome 31 test
Trichohepatoenteric syndrome 11 test
Trichohepatoenteric syndrome 21 test
Trichorhinophalangeal dysplasia type I1 test
Trichothiodystrophy 1, photosensitive1 test
Trimethylaminuria1 test
Tuberous sclerosis 13 tests
Tuberous sclerosis 22 tests
Tumoral calcinosis, hyperphosphatemic, familial, 12 tests
Tyrosinase-positive oculocutaneous albinism3 tests
Tyrosinemia type I1 test
UDPglucose-4-epimerase deficiency1 test
Ullrich congenital muscular dystrophy 1A3 tests
Ulnar-mammary syndrome1 test
Unverricht-Lundborg syndrome1 test
Upshaw-Schulman syndrome1 test
Usher syndrome type 11 test
Usher syndrome type 1D1 test
Usher syndrome type 2A1 test
Usher syndrome type 31 test
Usher syndrome type 3B1 test
Van der Woude syndrome 11 test
Vanishing white matter disease5 tests
Variegate porphyria1 test
Very long chain acyl-CoA dehydrogenase deficiency3 tests
Vitamin D-dependent rickets, type 11 test
Vitelliform macular dystrophy 22 tests
Vitiligo-associated multiple autoimmune disease susceptibility 11 test
Von Hippel-Lindau syndrome1 test
von Willebrand disease type 11 test
von Willebrand disease type 21 test
von Willebrand disease type 31 test
Waardenburg syndrome type 11 test
Waardenburg syndrome type 2A1 test
Waardenburg syndrome type 4C1 test
Weaver syndrome1 test
Weill-Marchesani syndrome 11 test
Werdnig-Hoffmann disease1 test
Werner syndrome1 test
Williams syndrome1 test
Wilms tumor 11 test
Wilson disease1 test
Wolcott-Rallison dysplasia1 test
Wolff-Parkinson-White pattern1 test
Wolfram syndrome 21 test
Wolfram-like syndrome1 test
X-linked agammaglobulinemia1 test
X-linked Alport syndrome2 tests
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia1 test
X-linked Emery-Dreifuss muscular dystrophy1 test
X-linked hydrocephalus syndrome1 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
X-linked intellectual disability-cerebellar hypoplasia 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 myopathy with postural muscle atrophy1 test
X-linked Opitz G/BBB syndrome1 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 C1 test
Zinc deficiency, transient neonatal1 test

List of services

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

Participation in external programs

Standardization programs

ISCA Consortium (International Standards for Cytogenomic Arrays)

Data exchange Programs

ICCG (International Collaboration for Clinical Genetics) - Previously ISCA

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