Institute for Human Genetics (University Clinic Freiburg)

General information

Institute for Human Genetics
University Clinic Freiburg
Freiburg
Baden-Wurttemberg
Germany - D-79106
http://www.humangenetik.uniklinik-freiburg.de/
Organization ID: 21170

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 228

Gene

GeneSubmissionsLast Updated
ALOX12B114Jan 18, 2021
ALOXE337Jan 18, 2021
CYP4F2243Apr 26, 2018
MITF1May 30, 2018
NIPAL425May 21, 2019
PORCN2Jan 17, 2018
SULT2B14May 10, 2017
SYNJ12Apr 25, 2018

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 21 test
3-Methylglutaconic aciduria type 31 test
46,XY sex reversal, type 61 test
ADULT syndrome1 test
Abortive cerebellar ataxia1 test
Achondroplasia1 test
Achromatopsia 21 test
Achromatopsia 31 test
Achromatopsia 41 test
Acne inversa, familial, 21 test
Acne inversa, familial, 31 test
Acrocephalosyndactyly type I1 test
Acroerythrokeratoderma1 test
Acrokeratosis verruciformis of Hopf1 test
Acromicric dysplasia1 test
Acute lymphoid leukemia1 test
Acute myeloid leukemia1 test
Adams-Oliver syndrome 11 test
Adams-Oliver syndrome 21 test
Adams-Oliver syndrome 51 test
Adermatoglyphia1 test
Adrenocortical carcinoma, hereditary1 test
Age-related macular degeneration 11 test
Age-related macular degeneration 21 test
Age-related macular degeneration 31 test
Age-related macular degeneration 61 test
Aicardi Goutieres syndrome 11 test
Aicardi Goutieres syndrome 21 test
Aicardi Goutieres syndrome 31 test
Aicardi Goutieres syndrome 41 test
Aicardi Goutieres syndrome 51 test
Aicardi-Goutieres syndrome 61 test
Aicardi-Goutieres syndrome 71 test
Alagille syndrome 11 test
Albinism, ocular, with sensorineural deafness1 test
Alport syndrome 1, X-linked recessive1 test
Alternating hemiplegia of childhood 21 test
Alzheimer disease 21 test
Alzheimer disease, type 31 test
Amelogenesis imperfecta, type IA1 test
Amelogenesis imperfecta, type IV1 test
Andersen Tawil syndrome1 test
Aniridia 11 test
Anterior segment dysgenesis 31 test
Anterior segment dysgenesis 41 test
Anterior segment dysgenesis 61 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Aortic aneurysm, familial thoracic 101 test
Aortic aneurysm, familial thoracic 11, susceptibility to1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 81 test
Aortic aneurysm, familial thoracic 91 test
Aortic valve disease 11 test
Aplastic anemia2 tests
Apolipoprotein C2 deficiency1 test
Arrhythmogenic right ventricular cardiomyopathy, type 101 test
Arrhythmogenic right ventricular cardiomyopathy, type 111 test
Arrhythmogenic right ventricular cardiomyopathy, type 121 test
Arrhythmogenic right ventricular cardiomyopathy, type 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Arrhythmogenic right ventricular dysplasia, familial 11 test
Arrhythmogenic right ventricular dysplasia, familial, 131 test
Arrhythmogenic right ventricular dysplasia, familial, 21 test
Arterial calcification, generalized, of infancy, 11 test
Arterial tortuosity syndrome1 test
Arthrogryposis, perthes disease, and upward gaze palsy1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Ataxia, spastic, 4, autosomal recessive1 test
Ataxia-oculomotor apraxia 41 test
Ataxia-telangiectasia syndrome1 test
Ataxia-telangiectasia-like disorder 11 test
Atrial fibrillation, familial, 101 test
Atrial fibrillation, familial, 111 test
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 131 test
Atrial fibrillation, familial, 141 test
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 61 test
Atrial fibrillation, familial, 71 test
Atrial fibrillation, familial, 91 test
Atrial septal defect 51 test
Atrial septal defect 7 with or without atrioventricular conduction defects1 test
Atrial standstill 11 test
Atrial standstill 21 test
Atrioventricular septal defect 31 test
Autoinflammation with arthritis and dyskeratosis1 test
Autoinflammation with infantile enterocolitis1 test
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated1 test
Autoinflammatory syndrome, familial, Behcet-like1 test
Autosomal dominant nonsyndromic deafness 61 test
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant torsion dystonia 41 test
Autosomal recessive DOPA responsive dystonia1 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 congenital ichthyosis 81 test
Autosomal recessive congenital ichthyosis 91 test
Autosomal recessive cutis laxa type 1B1 test
Autosomal recessive cutis laxa type IA1 test
Autosomal recessive keratitis-ichthyosis-deafness syndrome1 test
Autosomal recessive osteopetrosis 71 test
Avellino corneal dystrophy1 test
Axenfeld-Rieger syndrome type 11 test
Axenfeld-Rieger syndrome type 31 test
Baller-Gerold syndrome1 test
Bardet-Biedl syndrome 12 tests
Bardet-Biedl syndrome 141 test
Bardet-Biedl syndrome 21 test
Bardet-Biedl syndrome 212 tests
Bardet-Biedl syndrome 31 test
Bardet-Biedl syndrome 81 test
Basal cell carcinoma, susceptibility to, 12 tests
Basal cell carcinoma, susceptibility to, 71 test
Basan syndrome1 test
Beaded hair3 tests
Beare-Stevenson cutis gyrata syndrome1 test
Benign scapuloperoneal muscular dystrophy with cardiomyopathy1 test
Bent bone dysplasia syndrome1 test
Bestrophinopathy, autosomal recessive1 test
Bietti crystalline corneoretinal dystrophy1 test
Blau syndrome1 test
Blepharocheilodontic syndrome 11 test
Bloom syndrome1 test
Bone fragility with contractures, arterial rupture, and deafness1 test
Bone osteosarcoma3 tests
Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
Bothnia retinal dystrophy1 test
Breast-ovarian cancer, familial 11 test
Breast-ovarian cancer, familial 21 test
Breast-ovarian cancer, familial 31 test
Breast-ovarian cancer, familial 41 test
Bronchiectasis with or without elevated sweat chloride 11 test
Brooke-Spiegler syndrome1 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
Brugada syndrome 91 test
Bullous ichthyosiform erythroderma2 tests
C1q deficiency3 tests
CEDNIK syndrome1 test
CK syndrome1 test
Café-au-lait macules with pulmonary stenosis1 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Camptomelic dysplasia1 test
Cancer of cervix1 test
Capillary malformation1 test
Capillary malformation-arteriovenous malformation 11 test
Capillary malformation-arteriovenous malformation 21 test
Carcinoma of colon7 tests
Carcinoma of pancreas4 tests
Cardiac arrhythmia, ankyrin B-related1 test
Cardiac valvular dysplasia, X-linked1 test
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy, dilated, 1NN1 test
Cardiomyopathy, dilated, 1u1 test
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis1 test
Carney-Stratakis syndrome3 tests
Cataract 34, multiple types1 test
Cataract-intellectual disability-hypogonadism syndrome1 test
Catecholaminergic polymorphic ventricular tachycardia type 11 test
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 11 test
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1 test
Cerebellar atrophy, visual impairment, and psychomotor retardation1 test
Cerebral cavernous malformation1 test
Cerebral cavernous malformations 21 test
Cerebral cavernous malformations 31 test
Cerebrooculofacioskeletal syndrome 21 test
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease type 2E1 test
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B1 test
Charcot-Marie-Tooth disease, axonal, type 2w1 test
Charcot-Marie-Tooth disease, demyelinating, type 1f1 test
Charcot-Marie-Tooth disease, type 2A2A1 test
Chilblain lupus 11 test
Chilblain lupus 21 test
Child syndrome1 test
Chondrodysplasia punctata 2 X-linked dominant1 test
Chondrosarcoma1 test
Choroid plexus papilloma1 test
Choroidal dystrophy, central areolar 11 test
Choroidal dystrophy, central areolar 21 test
Choroideremia1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic obstructive pulmonary disease1 test
Chédiak-Higashi syndrome1 test
Cole disease1 test
Coloboma of optic nerve (disease)1 test
Colorectal cancer 101 test
Colorectal cancer, susceptibility to, 121 test
Combined immunodeficiency due to ORAI1 deficiency1 test
Combined oxidative phosphorylation deficiency 71 test
Cone dystrophy 41 test
Cone dystrophy with supernormal rod response1 test
Cone-rod dystrophy 101 test
Cone-rod dystrophy 111 test
Cone-rod dystrophy 121 test
Cone-rod dystrophy 131 test
Cone-rod dystrophy 151 test
Cone-rod dystrophy 162 tests
Cone-rod dystrophy 21 test
Cone-rod dystrophy 201 test
Cone-rod dystrophy 31 test
Cone-rod dystrophy 61 test
Cone-rod dystrophy 91 test
Cone-rod dystrophy and hearing loss 21 test
Cone-rod dystrophy, X-linked 11 test
Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
Congenital central hypoventilation1 test
Congenital contractural arachnodactyly1 test
Congenital hereditary endothelial dystrophy of the cornea1 test
Congenital hypotrichosis with juvenile macular dystrophy1 test
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi1 test
Congenital muscular dystrophy, LMNA-related1 test
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A51 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A21 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A61 test
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B11 test
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B21 test
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B31 test
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B61 test
Congenital ocular coloboma1 test
Congenital primary aphakia1 test
Congenital stationary night blindness, autosomal dominant 11 test
Congenital stationary night blindness, autosomal dominant 21 test
Congenital stationary night blindness, autosomal dominant 31 test
Congenital stationary night blindness, type 1A1 test
Congenital stationary night blindness, type 1B1 test
Congenital stationary night blindness, type 1C1 test
Congenital stationary night blindness, type 1F1 test
Congenital stationary night blindness, type 2A1 test
Congenital stromal corneal dystrophy1 test
Conotruncal heart malformations1 test
Corneal dystrophy, Fuchs endothelial 11 test
Corneal dystrophy, Fuchs endothelial, 41 test
Corneal dystrophy, Fuchs endothelial, 61 test
Corneal dystrophy, Fuchs endothelial, 81 test
Corneal dystrophy, lattice type 3A1 test
Corneal dystrophy, posterior polymorphous, 21 test
Corneal dystrophy-perceptive deafness syndrome1 test
Corneal epithelial dystrophy1 test
Corpus callosum agenesis-abnormal genitalia syndrome1 test
Cortical dysplasia, complex, with other brain malformations 11 test
Costello syndrome1 test
Cowden syndrome 11 test
Cowden syndrome 51 test
Cowden syndrome 61 test
Craniometaphyseal dysplasia, autosomal recessive1 test
Crouzon syndrome1 test
Crouzon syndrome with acanthosis nigricans1 test
Cutaneous malignant melanoma 11 test
Cutaneous malignant melanoma 21 test
Cutaneous malignant melanoma 31 test
Cutis laxa, autosomal dominant 11 test
Cutis laxa, autosomal dominant 21 test
Cyclical neutropenia1 test
Cylindromatosis, familial1 test
Cystic fibrosis1 test
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome1 test
Deafness dystonia syndrome1 test
Deafness, autosomal dominant 111 test
Deafness, autosomal dominant 2b1 test
Deafness, autosomal dominant 34, with or without inflammation1 test
Deafness, autosomal dominant 3a1 test
Deafness, autosomal dominant 3b1 test
Deafness, autosomal recessive 181 test
Deafness, autosomal recessive 1A3 tests
Deafness, autosomal recessive 1b1 test
Deafness, autosomal recessive 21 test
Deafness, autosomal recessive 231 test
Deafness, autosomal recessive 311 test
Deafness, autosomal recessive 481 test
Deafness, autosomal recessive 971 test
Deafness, congenital heart defects, and posterior embryotoxon1 test
Dermatitis, atopic, 21 test
Dermatopathia pigmentosa reticularis1 test
Desmoid disease, hereditary1 test
Developmental delay and seizures with or without movement abnormalities1 test
Diabetes mellitus type 11 test
Diarrhea 5, with tufting enteropathy, congenital1 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1E1 test
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1GG1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy with woolly hair and keratoderma1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Distal myopathy, Tateyama type1 test
Dominant dystrophic epidermolysis bullosa with absence of skin1 test
Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
Dowling-Degos disease 11 test
Drash syndrome1 test
Dystonia 11 test
Dystonia 121 test
Dystonia 51 test
EEM syndrome1 test
Early infantile epileptic encephalopathy 101 test
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal1 test
Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant1 test
Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia and immunodeficiency 21 test
Ectopia lentis 2, isolated, autosomal recessive1 test
Ectopia lentis et pupillae1 test
Ectopia lentis, isolated, autosomal dominant1 test
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 31 test
Ehlers-Danlos syndrome classic type 21 test
Ehlers-Danlos syndrome dermatosparaxis type1 test
Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1 test
Ehlers-Danlos syndrome, arthrochalasia type, 11 test
Ehlers-Danlos syndrome, cardiac valvular type1 test
Ehlers-Danlos syndrome, classic type2 tests
Ehlers-Danlos syndrome, hydroxylysine-deficient1 test
Ehlers-Danlos syndrome, musculocontractural type1 test
Ehlers-Danlos syndrome, musculocontractural type 21 test
Ehlers-Danlos syndrome, progeroid type, 21 test
Ehlers-Danlos syndrome, spondylodysplastic type, 11 test
Ehlers-Danlos syndrome, type 41 test
Ehlers-danlos syndrome, arthrochalasia type, 21 test
Elevated serum creatine phosphokinase1 test
Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Endometrial carcinoma4 tests
Enhanced S-cone syndrome1 test
Epidermal nevus4 tests
Epidermal nevus syndrome3 tests
Epidermolysis bullosa junctionalis with pyloric atresia2 tests
Epidermolysis bullosa pruriginosa1 test
Epidermolysis bullosa simplex Dowling-Meara type2 tests
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 muscular dystrophy1 test
Epidermolysis bullosa simplex with nail dystrophy1 test
Epidermolysis bullosa simplex with pyloric atresia1 test
Epidermolysis bullosa simplex, Koebner type2 tests
Epidermolysis bullosa simplex, Ogna type1 test
Epidermolysis bullosa simplex, autosomal recessive2 tests
Epidermolysis bullosa simplex, autosomal recessive 21 test
Epidermolysis bullosa simplex, generalized, with scarring and hair loss1 test
Epidermolysis bullosa, nonspecific, autosomal recessive1 test
Epidermolytic palmoplantar keratoderma2 tests
Epilepsy, familial temporal lobe, 71 test
Epileptic encephalopathy, early infantile, 11 test
Epileptic encephalopathy, early infantile, 521 test
Epileptic encephalopathy, early infantile, 531 test
Episodic pain syndrome, familial, 21 test
Epithelial recurrent erosion dystrophy1 test
Erythrocytosis, familial, 21 test
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige1 test
Erythroderma, ichthyosiform, congenital reticular1 test
Erythrokeratodermia variabilis et progressiva 11 test
Erythrokeratodermia variabilis et progressiva 21 test
Erythrokeratodermia variabilis et progressiva 31 test
Erythrokeratodermia variabilis et progressiva 41 test
Erythrokeratodermia variabilis et progressiva 51 test
Exudative vitreoretinopathy 61 test
FG syndrome 11 test
FG syndrome 21 test
Facial dysmorphism, immunodeficiency, livedo, and short stature1 test
Familial Mediterranean fever1 test
Familial acne inversa 11 test
Familial adenomatous polyposis 11 test
Familial adenomatous polyposis 31 test
Familial adenomatous polyposis 41 test
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial benign pemphigus1 test
Familial cancer of breast12 tests
Familial cold autoinflammatory syndrome 11 test
Familial cold autoinflammatory syndrome 21 test
Familial cold autoinflammatory syndrome 31 test
Familial cold autoinflammatory syndrome 41 test
Familial expansile osteolysis1 test
Familial hemophagocytic lymphohistiocytosis 21 test
Familial hemophagocytic lymphohistiocytosis 31 test
Familial hemophagocytic lymphohistiocytosis 41 test
Familial hyperaldosteronism type 31 test
Familial hypercholesterolemia 13 tests
Familial hypercholesterolemia 21 test
Familial hypercholesterolemia 31 test
Familial hypercholesterolemia 41 test
Familial hypertriglyceridemia1 test
Familial hypertrophic cardiomyopathy 12 tests
Familial hypertrophic cardiomyopathy 101 test
Familial hypertrophic cardiomyopathy 111 test
Familial hypertrophic cardiomyopathy 181 test
Familial hypertrophic cardiomyopathy 21 test
Familial hypertrophic cardiomyopathy 31 test
Familial hypertrophic cardiomyopathy 41 test
Familial hypertrophic cardiomyopathy 61 test
Familial hypertrophic cardiomyopathy 71 test
Familial hypoalphalipoproteinemia2 tests
Familial mediterranean fever, autosomal dominant1 test
Familial medullary thyroid carcinoma1 test
Familial multiple trichoepitheliomata1 test
Familial partial lipodystrophy 21 test
Familial restrictive cardiomyopathy 11 test
Familial restrictive cardiomyopathy 31 test
Familial type 3 hyperlipoproteinemia1 test
Familial type 5 hyperlipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type1 test
Fanconi anemia, complementation group C1 test
Fanconi anemia, complementation group D11 test
Fanconi anemia, complementation group J1 test
Fanconi anemia, complementation group N1 test
Fanconi anemia, complementation group O1 test
Fanconi anemia, complementation group P1 test
Fanconi anemia, complementation group U1 test
Fasting plasma glucose level quantitative trait locus 51 test
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement1 test
Fibrous dysplasia of jaw1 test
Fish-eye disease1 test
Fleck corneal dystrophy1 test
Focal cortical dysplasia type II2 tests
Focal dermal hypoplasia1 test
Foveal hypoplasia and presenile cataract syndrome1 test
Fraser syndrome 31 test
Frasier syndrome1 test
Frontometaphyseal dysplasia 11 test
Frontotemporal dementia1 test
Fumarase deficiency1 test
GAPO syndrome1 test
GTP cyclohydrolase I deficiency1 test
Gallbladder disease 41 test
Gastrointestinal stromal tumor2 tests
Gaucher disease type 3C1 test
Gaucher disease type I1 test
Gaucher disease type II1 test
Gaucher disease type III1 test
Gaucher disease, perinatal lethal1 test
Geleophysic dysplasia 21 test
Generalized dominant dystrophic epidermolysis bullosa1 test
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized juvenile polyposis/juvenile polyposis coli2 tests
Gingival fibromatosis 11 test
Glaucoma 3, primary congenital, A1 test
Glaucoma 3, primary congenital, E1 test
Glaucoma, normal tension, susceptibility to1 test
Glioma susceptibility 11 test
Glioma susceptibility 21 test
Glioma susceptibility 31 test
Glioma susceptibility 91 test
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1 test
Glomuvenous malformations1 test
Glycogen storage disease of heart, lethal congenital1 test
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors1 test
Gorlin syndrome1 test
Graft-versus-host disease, susceptibility to1 test
Griscelli syndrome type 21 test
Groenouw corneal dystrophy type I1 test
Haim-Munk syndrome1 test
Hair morphology 11 test
Hawkinsinuria1 test
Hay-Wells syndrome of ectodermal dysplasia1 test
Heart-hand syndrome, Slovenian type1 test
Hemangioma, capillary infantile2 tests
Hemolytic anemia due to hexokinase deficiency1 test
Hemophagocytic lymphohistiocytosis, familial, 51 test
Hepatic lipase deficiency1 test
Hepatitis b virus, susceptibility to1 test
Hepatocellular carcinoma4 tests
Hereditary congenital facial paresis 31 test
Hereditary diffuse gastric cancer3 tests
Hereditary disease79 tests
Hereditary hemorrhagic telangiectasia type 11 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary lymphedema type I1 test
Hereditary mixed polyposis syndrome 21 test
Hereditary motor and sensory neuropathy with optic atrophy1 test
Hereditary nonpolyposis colorectal cancer type 41 test
Hereditary nonpolyposis colorectal cancer type 51 test
Hereditary nonpolyposis colorectal cancer type 61 test
Hereditary nonpolyposis colorectal cancer type 81 test
Hereditary pancreatitis4 tests
Hermansky-Pudlak syndrome 21 test
Hermansky-Pudlak syndrome 91 test
Heterotopia, periventricular, autosomal recessive1 test
Hidrotic ectodermal dysplasia syndrome1 test
High density lipoprotein cholesterol level quantitative trait locus 121 test
Hirschsprung disease 11 test
Histiocytosis-lymphadenopathy plus syndrome1 test
Holoprosencephaly 71 test
Human immunodeficiency virus type 1, susceptibility to1 test
Huntington disease1 test
Hutchinson-Gilford syndrome1 test
Hydatidiform mole, recurrent, 11 test
Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to1 test
Hyperalphalipoproteinemia 11 test
Hyperalphalipoproteinemia 21 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperlipidemia, familial combined, LPL related1 test
Hyperlipoproteinemia, type I1 test
Hyperlipoproteinemia, type ID1 test
Hyperparathyroidism 11 test
Hyperparathyroidism 21 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertriglyceridemia, transient infantile1 test
Hypobetalipoproteinemia, familial, 11 test
Hypocalcemia, autosomal dominant 21 test
Hypocalciuric hypercalcemia, familial, type II1 test
Hypochondroplasia1 test
Hypohidrotic X-linked ectodermal dysplasia1 test
Hypophosphatemic rickets, autosomal recessive, 21 test
Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
Hypoplastic left heart syndrome 11 test
Hypoplastic left heart syndrome 21 test
Hypothyroidism, congenital, nongoitrous, 51 test
Hypotrichosis 21 test
Hypotrichosis 61 test
Hypotrichosis and recurrent skin vesicles1 test
Hypotrichosis-lymphedema-telangiectasia syndrome1 test
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
Hystrix-like ichthyosis with deafness1 test
IFAP syndrome with or without BRESHECK syndrome1 test
Ichthyosis bullosa of Siemens1 test
Ichthyosis hystrix of Curth-Macklin1 test
Ichthyosis prematurity syndrome1 test
Ichthyosis vulgaris1 test
Ichthyosis, congenital, autosomal recessive 111 test
Ichthyosis, congenital, autosomal recessive 121 test
Ichthyosis, congenital, autosomal recessive 131 test
Ichthyosis, congenital, autosomal recessive 141 test
Ichthyosis, cyclic, with epidermolytic hyperkeratosis2 tests
Ichthyosis, spastic quadriplegia, and mental retardation1 test
Immunodeficiency 38 with basal ganglia calcification1 test
Infantile cerebellar-retinal degeneration1 test
Infantile cortical hyperostosis1 test
Infantile liver failure syndrome 21 test
Infantile nystagmus, X-linked1 test
Inflammatory bowel disease 11 test
Inflammatory bowel disease 25, autosomal recessive1 test
Inflammatory bowel disease 28, autosomal recessive1 test
Inflammatory skin and bowel disease, neonatal, 21 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1 test
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital1 test
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1 test
Irido-corneo-trabecular dysgenesis1 test
Jackson-Weiss syndrome1 test
Jervell and Lange-Nielsen syndrome 11 test
Jervell and Lange-Nielsen syndrome 21 test
Joubert syndrome 101 test
Joubert syndrome 51 test
Junctional epidermolysis bullosa gravis of Herlitz3 tests
Junctional epidermolysis bullosa, non-Herlitz type5 tests
Juvenile myelomonocytic leukemia3 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
Juvenile retinoschisis1 test
Keratitis, hereditary1 test
Keratitis-ichthyosis-deafness syndrome, autosomal dominant1 test
Keratoderma with scleroatrophy of the extremities1 test
Keratosis follicularis1 test
Keratosis follicularis spinulosa decalvans, X-linked1 test
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma1 test
Keratosis palmoplantaris striata 31 test
Keratosis palmoplantaris striata II1 test
Keratosis pilaris1 test
Kindler syndrome1 test
Knuckle pads, deafness AND leukonychia syndrome1 test
LCAT deficiency1 test
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Large congenital melanocytic nevus2 tests
Laryngo-onycho-cutaneous syndrome1 test
Lattice corneal dystrophy Type I1 test
Lattice corneal dystrophy Type III1 test
Leber congenital amaurosis 11 test
Leber congenital amaurosis 101 test
Leber congenital amaurosis 111 test
Leber congenital amaurosis 131 test
Leber congenital amaurosis 141 test
Leber congenital amaurosis 151 test
Leber congenital amaurosis 21 test
Leber congenital amaurosis 31 test
Leber congenital amaurosis 41 test
Leber congenital amaurosis 51 test
Leber congenital amaurosis 61 test
Leber congenital amaurosis 71 test
Leber congenital amaurosis 81 test
Leber congenital amaurosis 91 test
Left ventricular noncompaction 101 test
Left ventricular noncompaction 61 test
Left ventricular noncompaction 81 test
Legius syndrome1 test
Leigh syndrome1 test
Leprosy 21 test
Lethal acantholytic epidermolysis bullosa1 test
Lethal congenital contracture syndrome 101 test
Lethal tight skin contracture syndrome2 tests
Leukodystrophy, hypomyelinating, 61 test
Levy-Hollister syndrome2 tests
Lewy body dementia2 tests
Li-Fraumeni syndrome 11 test
Li-Fraumeni syndrome 21 test
Limb-girdle muscular dystrophy, type 2Q1 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C11 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C21 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C31 test
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51 test
Limb-mammary syndrome1 test
Lipase deficiency, combined1 test
Lipodystrophy, congenital generalized, type 31 test
Lipoprotein glomerulopathy1 test
Lissencephaly 2, X-linked1 test
Lissencephaly 31 test
Lissencephaly 51 test
Lissencephaly due to LIS1 mutation1 test
Lissencephaly, X-linked1 test
Localized epidermolysis bullosa simplex3 tests
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 31 test
Loeys-Dietz syndrome 41 test
Loeys-Dietz syndrome 51 test
Long QT syndrome 11 test
Long QT syndrome 101 test
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 131 test
Long QT syndrome 141 test
Long QT syndrome 151 test
Long QT syndrome 21 test
Long QT syndrome 31 test
Long QT syndrome 51 test
Long QT syndrome 61 test
Long QT syndrome 91 test
Lopes-Maciel-Rodan syndrome1 test
Lung carcinoma5 tests
Lymphangiomyomatosis2 tests
Lymphoproliferative syndrome 11 test
Lymphoproliferative syndrome 1, X-linked1 test
Lymphoproliferative syndrome 21 test
Lymphoproliferative syndrome 2, X-linked1 test
Lynch syndrome I1 test
Lynch syndrome II1 test
Lysinuric protein intolerance1 test
MASS syndrome1 test
MEND syndrome1 test
MYH-associated polyposis1 test
MYH7-related late-onset scapuloperoneal muscular dystrophy1 test
Macrocephaly/autism syndrome1 test
Macular corneal dystrophy1 test
Macular degeneration, X-linked atrophic1 test
Macular degeneration, early-onset1 test
Macular dystrophy, patterned, 11 test
Macular dystrophy, patterned, 21 test
Macular dystrophy, vitelliform, 41 test
Macular dystrophy, vitelliform, 51 test
Macular dystrophy, vitelliform, adult-onset1 test
Majeed syndrome1 test
Malignant tumor of esophagus1 test
Malignant tumor of prostate4 tests
Malignant tumor of testis2 tests
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome1 test
Mandibuloacral dysplasia with type A lipodystrophy1 test
Mandibuloacral dysplasia with type B lipodystrophy1 test
Marfan lipodystrophy syndrome1 test
Marfan syndrome1 test
Maturity-onset diabetes of the young type 61 test
Meacham syndrome1 test
Meckel syndrome, type 41 test
Medulloblastoma1 test
Meesmann corneal dystrophy 12 tests
Meester-loeys syndrome1 test
Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
Melanoma and neural system tumor syndrome1 test
Melanoma, cutaneous malignant, susceptibility to, 101 test
Melanoma-pancreatic cancer syndrome1 test
Melnick-Needles syndrome1 test
Meningioma, familial2 tests
Mental retardation, X-linked, syndromic, Raymond type1 test
Mental retardation, autosomal dominant 151 test
Mental retardation, autosomal dominant 161 test
Mental retardation, autosomal dominant 331 test
Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1 test
Mental retardation, syndromic 14, X-linked1 test
Mental retardation, with or without seizures, ARX-related, X-linked1 test
Meretoja syndrome1 test
Mesothelioma, malignant1 test
Metachondromatosis1 test
Mevalonic aciduria1 test
Microcephaly, normal intelligence and immunodeficiency1 test
Microvascular complications of diabetes 41 test
Microvascular complications of diabetes 51 test
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
Mitochondrial complex II deficiency, nuclear type 12 tests
Moyamoya disease 51 test
Mucopolysaccharidosis, MPS-III-C1 test
Muenke syndrome1 test
Muir-Torré syndrome2 tests
Multiple congenital exostosis1 test
Multiple cutaneous and mucosal venous malformations1 test
Multiple endocrine neoplasia, type 11 test
Multiple endocrine neoplasia, type 2a1 test
Multiple endocrine neoplasia, type 2b1 test
Multiple endocrine neoplasia, type 41 test
Multiple fibrofolliculomas1 test
Multiple sclerosis, susceptibility to, 51 test
Multiple self-healing squamous epithelioma1 test
Multiple sulfatase deficiency1 test
Multisystemic smooth muscle dysfunction syndrome1 test
Muscle eye brain disease1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 test
Mutilating keratoderma1 test
Myhre syndrome1 test
Myoclonic dystonia 111 test
Myofibrillar myopathy 11 test
Myofibrillar myopathy, ZASP-related1 test
Myopathy, distal, 11 test
Myopathy, myosin storage, autosomal recessive1 test
Myopathy, tubular aggregate, 21 test
Myosin storage myopathy1 test
Naegeli-Franceschetti-Jadassohn syndrome1 test
Nail disorder, nonsyndromic congenital, 81 test
Nasopharyngeal carcinoma1 test
Naxos disease1 test
Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
Neoplasm of ovary4 tests
Neoplasm of stomach4 tests
Nephrogenic diabetes insipidus, X-linked1 test
Nephrogenic diabetes insipidus, autosomal1 test
Nephrogenic syndrome of inappropriate antidiuresis1 test
Nephropathy with pretibial epidermolysis bullosa and deafness1 test
Nephrotic syndrome type 161 test
Nephrotic syndrome, type 41 test
Netherton syndrome1 test
Neurocutaneous melanocytosis1 test
Neurofibromatosis, familial spinal1 test
Neurofibromatosis, type 11 test
Neurofibromatosis, type 21 test
Neurofibromatosis-Noonan syndrome1 test
Neurogenic scapuloperoneal syndrome, Kaeser type1 test
Neurohypophyseal diabetes insipidus1 test
Neuropathy, hereditary motor and sensory, Russe type1 test
Neuropathy, hereditary motor and sensory, type 6B1 test
Neuropathy, hereditary sensory and autonomic, type VI1 test
Neutral lipid storage myopathy1 test
Neutropenia, severe congenital 1, autosomal dominant1 test
Nevus comedonicus1 test
Newfoundland rod-cone dystrophy1 test
Night blindness, congenital stationary, type 1g1 test
Nijmegen breakage syndrome-like disorder1 test
Non-Hodgkin lymphoma1 test
Nonepidermolytic palmoplantar keratoderma1 test
Noonan syndrome 11 test
Noonan syndrome 101 test
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 61 test
Noonan syndrome 71 test
Noonan syndrome 81 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1 test
Norman-Roberts syndrome1 test
Obesity1 test
Occult macular dystrophy1 test
Ocular albinism, type II1 test
Oculocutaneous albinism type 1B1 test
Oculodentodigital dysplasia1 test
Oculodentodigital dysplasia, autosomal recessive1 test
Odonto-onycho-dermal dysplasia1 test
Oguchi disease1 test
Ohdo syndrome, X-linked1 test
Olmsted syndrome 11 test
Optic atrophy 10 with or without ataxia, mental retardation, and seizures1 test
Optic atrophy 31 test
Optic atrophy 71 test
Optic atrophy 91 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Optic nerve hypoplasia, bilateral1 test
Ornithine aminotransferase deficiency1 test
Orofacial cleft 51 test
Orofaciodigital syndrome I1 test
Osteofibrous dysplasia1 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III2 tests
Osteogenesis imperfecta with normal sclerae, dominant form2 tests
Osteogenesis imperfecta, recessive perinatal lethal2 tests
Osteomyelitis, sterile multifocal, with periostitis and pustulosis1 test
Oto-palato-digital syndrome, type I1 test
Oto-palato-digital syndrome, type II1 test
PERCHING syndrome1 test
Pachyonychia congenita 11 test
Pachyonychia congenita 21 test
Pachyonychia congenita 31 test
Pachyonychia congenita 41 test
Paget disease of bone 2, early-onset1 test
Palmoplantar carcinoma, multiple self-healing1 test
Palmoplantar keratoderma and woolly hair1 test
Palmoplantar keratoderma i, striate, focal, or diffuse1 test
Palmoplantar keratoderma, Bothnian type1 test
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked1 test
Palmoplantar keratoderma, nagashima type1 test
Palmoplantar keratoderma, nonepidermolytic, focal 11 test
Palmoplantar keratoderma, nonepidermolytic, focal 21 test
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
Palmoplantar keratoderma, punctate type 1A1 test
Palmoplantar keratoderma-deafness syndrome1 test
Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
Pancreatic cancer 21 test
Pancreatic cancer 31 test
Pancreatic cancer 41 test
Papillon-Lefèvre syndrome1 test
Paragangliomas 11 test
Paragangliomas 31 test
Paragangliomas 41 test
Paragangliomas 51 test
Parathyroid carcinoma1 test
Parkinson disease 11 test
Parkinson disease 171 test
Parkinson disease 21 test
Parkinson disease 20, early-onset1 test
Parkinson disease 41 test
Parkinson disease 6, autosomal recessive early-onset1 test
Parkinson disease 8, autosomal dominant1 test
Parkinson disease, late-onset1 test
Paroxysmal familial ventricular fibrillation 11 test
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
Partington syndrome1 test
Peeling skin syndrome 11 test
Peeling skin syndrome 21 test
Peeling skin syndrome 31 test
Peeling skin syndrome 41 test
Peeling skin syndrome 51 test
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads1 test
Periodontitis, aggressive, 11 test
Periventricular nodular heterotopia 11 test
Peters plus syndrome1 test
Peutz-Jeghers syndrome1 test
Pfeiffer syndrome1 test
Pheochromocytoma6 tests
Phytanic acid storage disease1 test
Pick disease1 test
Pigmentary disorder, reticulate, with systemic manifestations, X-linked1 test
Pigmentary retinal dystrophy4 tests
Pigmented paravenous chorioretinal atrophy1 test
Pilomatrixoma1 test
Pityriasis rubra pilaris1 test
Plasma triglyceride level quantitative trait locus1 test
Platelet-type bleeding disorder 91 test
Pneumothorax, primary spontaneous1 test
Polyarteritis nodosa, childhoood-onset2 tests
Polyglucosan body myopathy 1 with or without immunodeficiency1 test
Polymicrogyria with optic nerve hypoplasia1 test
Polymicrogyria, asymmetric1 test
Polymicrogyria, bilateral frontoparietal1 test
Polymicrogyria, bilateral perisylvian, autosomal recessive1 test
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1 test
Porokeratosis 3, disseminated superficial actinic type1 test
Porokeratosis 7, multiple types1 test
Porokeratosis 9, multiple types1 test
Porokeratosis of Mibelli1 test
Posterior polymorphous corneal dystrophy 31 test
Postmenopausal osteoporosis2 tests
Pretibial epidermolysis bullosa1 test
Primary autosomal recessive microcephaly 11 test
Primary autosomal recessive microcephaly 111 test
Primary autosomal recessive microcephaly 121 test
Primary autosomal recessive microcephaly 21 test
Primary autosomal recessive microcephaly 31 test
Primary autosomal recessive microcephaly 51 test
Primary autosomal recessive microcephaly 61 test
Primary autosomal recessive microcephaly 71 test
Primary autosomal recessive microcephaly 81 test
Primary autosomal recessive microcephaly 91 test
Primary pulmonary hypertension 31 test
Progressive familial heart block type IB1 test
Progressive familial heart block, type 1A1 test
Proteasome-associated autoinflammatory syndrome 11 test
Proteus syndrome1 test
Pseudo-TORCH syndrome 21 test
Psoriasis 15, pustular, susceptibility to1 test
Psoriasis susceptibility 21 test
Psoriatic arthritis, susceptibility to1 test
Pustular psoriasis, generalized1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
RAPH BLOOD GROUP SYSTEM1 test
RAS-associated autoimmune leukoproliferative disorder2 tests
Rapadilino syndrome1 test
Rapp-Hodgkin ectodermal dysplasia syndrome1 test
Recessive dystrophic epidermolysis bullosa2 tests
Reis-Bucklers' corneal dystrophy1 test
Renal cell carcinoma, nonpapillary2 tests
Renal cell carcinoma, papillary, 11 test
Respiratory papillomatosis, juvenile recurrent, congenital1 test
Retinal cone dystrophy 3A1 test
Retinal dystrophy with or without extraocular anomalies1 test
Retinal macular dystrophy type 21 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
Retinitis pigmentosa 11 test
Retinitis pigmentosa 101 test
Retinitis pigmentosa 111 test
Retinitis pigmentosa 121 test
Retinitis pigmentosa 131 test
Retinitis pigmentosa 141 test
Retinitis pigmentosa 151 test
Retinitis pigmentosa 171 test
Retinitis pigmentosa 181 test
Retinitis pigmentosa 191 test
Retinitis pigmentosa 21 test
Retinitis pigmentosa 201 test
Retinitis pigmentosa 231 test
Retinitis pigmentosa 251 test
Retinitis pigmentosa 261 test
Retinitis pigmentosa 271 test
Retinitis pigmentosa 281 test
Retinitis pigmentosa 311 test
Retinitis pigmentosa 331 test
Retinitis pigmentosa 351 test
Retinitis pigmentosa 361 test
Retinitis pigmentosa 371 test
Retinitis pigmentosa 381 test
Retinitis pigmentosa 391 test
Retinitis pigmentosa 41 test
Retinitis pigmentosa 401 test
Retinitis pigmentosa 411 test
Retinitis pigmentosa 421 test
Retinitis pigmentosa 431 test
Retinitis pigmentosa 441 test
Retinitis pigmentosa 451 test
Retinitis pigmentosa 461 test
Retinitis pigmentosa 471 test
Retinitis pigmentosa 481 test
Retinitis pigmentosa 491 test
Retinitis pigmentosa 501 test
Retinitis pigmentosa 511 test
Retinitis pigmentosa 542 tests
Retinitis pigmentosa 551 test
Retinitis pigmentosa 561 test
Retinitis pigmentosa 571 test
Retinitis pigmentosa 581 test
Retinitis pigmentosa 591 test
Retinitis pigmentosa 601 test
Retinitis pigmentosa 611 test
Retinitis pigmentosa 621 test
Retinitis pigmentosa 661 test
Retinitis pigmentosa 671 test
Retinitis pigmentosa 681 test
Retinitis pigmentosa 691 test
Retinitis pigmentosa 72 tests
Retinitis pigmentosa 701 test
Retinitis pigmentosa 711 test
Retinitis pigmentosa 721 test
Retinitis pigmentosa 731 test
Retinitis pigmentosa 741 test
Retinitis pigmentosa 751 test
Retinitis pigmentosa 761 test
Retinitis pigmentosa 771 test
Retinitis pigmentosa 781 test
Retinitis pigmentosa 791 test
Retinitis pigmentosa 801 test
Retinitis pigmentosa 82 with or without situs inversus1 test
Retinitis pigmentosa 91 test
Retinitis pigmentosa and erythrocytic microcytosis1 test
Retinitis pigmentosa with or without skeletal anomalies1 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Retinoblastoma1 test
Rett syndrome, congenital variant1 test
Rhabdoid tumor predisposition syndrome 11 test
Rhabdoid tumor predisposition syndrome 21 test
Rhabdomyosarcoma, embryonal, 21 test
Rheumatoid arthritis1 test
Ring dermoid of cornea1 test
Rippling muscle disease 21 test
Rothmund-Thomson syndrome1 test
SUDDEN INFANT DEATH SYNDROME1 test
Saethre-Chotzen syndrome1 test
Saldino-Mainzer syndrome1 test
Scaphocephaly, maxillary retrusion, and mental retardation1 test
Schizophrenia1 test
Schnyder crystalline corneal dystrophy1 test
Schopf-Schulz-Passarge syndrome1 test
Schwannomatosis 12 tests
Schwannomatosis 21 test
Sea-blue histiocyte syndrome1 test
Seborrheic keratosis1 test
Seckel syndrome 41 test
Seckel syndrome 51 test
Selective tooth agenesis 11 test
Senior-Loken syndrome 61 test
Sessile serrated polyposis cancer syndrome1 test
Severe achondroplasia with developmental delay and acanthosis nigricans1 test
Short QT syndrome 11 test
Short QT syndrome 21 test
Short QT syndrome 31 test
Short stature, optic nerve atrophy, and Pelger-Huet anomaly1 test
Short-rib thoracic dysplasia 10 with or without polydactyly1 test
Shprintzen-Goldberg syndrome1 test
Sick sinus syndrome 1, autosomal recessive1 test
Sick sinus syndrome 2, autosomal dominant1 test
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay1 test
Simpson-Golabi-Behmel syndrome, type 21 test
Singleton-Merten syndrome 11 test
Singleton-Merten syndrome 21 test
Sitosterolemia2 tests
Sjögren-Larsson syndrome1 test
Skin fragility-woolly hair-palmoplantar keratoderma syndrome1 test
Skin/hair/eye pigmentation, variation in, 31 test
Small cell lung carcinoma1 test
Sneddon syndrome2 tests
Spastic paraplegia 55, autosomal recessive1 test
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 341 test
Split-hand/foot malformation 41 test
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like1 test
Spondyloenchondrodysplasia with immune dysregulation1 test
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1 test
Squamous cell carcinoma of the head and neck1 test
Stargardt Disease 31 test
Stargardt disease 12 tests
Stargardt disease 41 test
Steatocystoma multiplex1 test
Stiff skin syndrome1 test
Sting-associated vasculopathy, infantile-onset1 test
Sturge-Weber syndrome1 test
Supravalvar aortic stenosis1 test
Symmetrical dyschromatosis of extremities1 test
Syndactyly type 31 test
Systemic lupus erythematosus1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tangier disease1 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Telangiectasia, hereditary hemorrhagic, type 51 test
Temtamy preaxial brachydactyly syndrome1 test
Terminal osseous dysplasia1 test
Tetralogy of Fallot2 tests
Thanatophoric dysplasia type 11 test
Thanatophoric dysplasia, type 21 test
Thiel-Behnke corneal dystrophy1 test
Thyroid cancer, nonmedullary, 22 tests
Timothy syndrome1 test
Tooth agenesis, selective, 41 test
Tooth agenesis, selective, X-linked, 11 test
Torsion dystonia 61 test
Transient bullous dermolysis of the newborn1 test
Tricho-dento-osseous syndrome1 test
Trichohepatoenteric syndrome 21 test
Trichorhinophalangeal dysplasia type I1 test
Trichorhinophalangeal syndrome, type III1 test
Trichothiodystrophy 1, photosensitive1 test
Trichothiodystrophy 2, photosensitive1 test
Trichothiodystrophy 3, photosensitive1 test
Trichothiodystrophy, nonphotosensitive 11 test
Triglyceride storage disease with ichthyosis1 test
Tropical calcific pancreatitis1 test
Trypsinogen deficiency1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tumor susceptibility linked to germline BAP1 mutations1 test
Turcot syndrome4 tests
Type 2 diabetes mellitus3 tests
Tyrosinase-negative oculocutaneous albinism1 test
Tyrosinemia type 31 test
Tyrosinemia type I1 test
Tyrosinemia type II1 test
Urinary bladder cancer4 tests
Usher Syndrome, Type III1 test
Usher syndrome type 11 test
Usher syndrome type 1D2 tests
Usher syndrome type 1F1 test
Usher syndrome, type 1C1 test
Usher syndrome, type 1G1 test
Usher syndrome, type 1J1 test
Usher syndrome, type 2A1 test
Usher syndrome, type 2C1 test
Usher syndrome, type 2D1 test
Usher syndrome, type 3B1 test
VACTERL association with hydrocephalus1 test
Ventricular fibrillation, paroxysmal familial, 21 test
Ventricular septal defect 31 test
Ventricular tachycardia, catecholaminergic polymorphic, 21 test
Ventricular tachycardia, catecholaminergic polymorphic, 41 test
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness1 test
Vesicoureteral reflux 81 test
Vitelliform macular dystrophy type 21 test
Vitiligo-associated multiple autoimmune disease susceptibility 11 test
Vitreoretinochoroidopathy1 test
Vohwinkel syndrome, variant form1 test
Von Hippel-Lindau syndrome1 test
Warburg micro syndrome 11 test
Warburg micro syndrome 21 test
Warburg micro syndrome 31 test
Weill-Marchesani syndrome 21 test
White sponge nevus 11 test
White sponge nevus 21 test
Wilms tumor 12 tests
Wolff-Parkinson-White pattern1 test
Wolfram syndrome 11 test
Wolfram syndrome 21 test
Wolfram-like syndrome, autosomal dominant1 test
X-linked cone-rod dystrophy 31 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
X-linked mental retardation with marfanoid habitus syndrome1 test
X-linked spondyloepimetaphyseal dysplasia1 test
Xeroderma pigmentosum, complementation group b1 test
Xeroderma pigmentosum, group D1 test
Yao syndrome1 test
autosomal dominant palmoplantar keratoderma and congenital alopecia1 test
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