Institute for Human Genetics

Institute for Human Genetics
University Medical Center Freiburg
Department: Institute for Human Genetics
Freiburg, Baden-Wurttemberg, Germany D-79106
Phone: +49 761 27070270
Fax: +49 761 27070410
Email: [email protected]
Online Contact: http://www.uniklinik-freiburg.de/humangenetik/live/index.html
Website: http://www.humangenetik.uniklinik-freiburg.de/
Affiliated with:
- clinic, http://www.uniklinik-freiburg.de/humangenetik/live/index.html

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GTR Lab ID: 21170, Last updated:2024-10-22

Personnel

Director: Judith Fischer, MD, Lab Director
Phone: +49 761 27070270
Fax: +49 761 27070410
Email: [email protected]

Conditions and tests

1351 conditions/phenotypes with 859 tests
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46,XX sex reversal 11 test
46,XX sex reversal 41 test
46,xx sex reversal 51 test
46,XY sex reversal 11 test
46,XY sex reversal 21 test
46,XY sex reversal 31 test
46,XY sex reversal 91 test
Abetalipoproteinaemia1 test
Abortive cerebellar ataxia1 test
Acheiropodia1 test
Achondrogenesis, type IA1 test
Achondroplasia1 test
Acne inversa, familial, 11 test
Acne inversa, familial, 21 test
Acne inversa, familial, 32 tests
Acral peeling skin syndrome1 test
Acrocallosal syndrome1 test
Acrocephalosyndactyly type I1 test
Acrodermatitis continua suppurativa of Hallopeau1 test
Acrodysostosis 1 with or without hormone resistance2 tests
Acroerythrokeratoderma1 test
Acrokeratosis verruciformis of Hopf1 test
Acromicric dysplasia2 tests
ACTH-independent macronodular adrenal hyperplasia 11 test
ACTH-independent macronodular adrenal hyperplasia 21 test
Acute lymphoid leukemia1 test
Acute myeloid leukemia1 test
Adams-Oliver syndrome 11 test
Adams-Oliver syndrome 21 test
Adams-Oliver syndrome 51 test
Adrenocortical carcinoma, hereditary2 tests
Adult-onset autosomal dominant demyelinating leukodystrophy1 test
Adult-onset proximal spinal muscular atrophy, autosomal dominant1 test
Age related macular degeneration 11 test
Age related macular degeneration 21 test
Al-Gazali syndrome1 test
Alagille syndrome due to a JAG1 point mutation1 test
Alagille syndrome due to a NOTCH2 point mutation1 test
Alternating hemiplegia of childhood 21 test
Alzheimer disease 21 test
Alzheimer disease 33 tests
Amelogenesis imperfecta type 1A1 test
Amyloidosis, hereditary systemic 11 test
Amyotrophic lateral sclerosis type 11 test
Amyotrophic lateral sclerosis type 101 test
Amyotrophic lateral sclerosis type 151 test
Amyotrophic lateral sclerosis type 221 test
Amyotrophic lateral sclerosis type 41 test
Amyotrophic lateral sclerosis type 51 test
Amyotrophic lateral sclerosis type 81 test
Amyotrophic lateral sclerosis, susceptibility to, 251 test
Amyotrophic neuralgia1 test
Andersen Tawil syndrome2 tests
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome1 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 81 test
Aortic aneurysm, familial thoracic 91 test
Aortic valve disease 11 test
Aortic valve disease 21 test
Aplastic anemia1 test
Apparent mineralocorticoid excess1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2 tests
Arrhythmogenic right ventricular dysplasia 12 tests
Arrhythmogenic right ventricular dysplasia 102 tests
Arrhythmogenic right ventricular dysplasia 112 tests
Arrhythmogenic right ventricular dysplasia 122 tests
Arrhythmogenic right ventricular dysplasia 51 test
Arrhythmogenic right ventricular dysplasia 82 tests
Arrhythmogenic right ventricular dysplasia 92 tests
Arterial calcification, generalized, of infancy, 11 test
Arterial tortuosity syndrome1 test
Arthrogryposis multiplex congenita 3, myogenic type1 test
Arthrogryposis multiplex congenita 51 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Asphyxiating thoracic dystrophy 41 test
Asphyxiating thoracic dystrophy 51 test
Ataxia-telangiectasia syndrome2 tests
Atrial fibrillation, familial, 102 tests
Atrial fibrillation, familial, 112 tests
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 131 test
Atrial fibrillation, familial, 141 test
Atrial fibrillation, familial, 32 tests
Atrial fibrillation, familial, 42 tests
Atrial fibrillation, familial, 61 test
Atrial fibrillation, familial, 71 test
Atrial fibrillation, familial, 92 tests
Atrial septal defect 31 test
Atrial septal defect 41 test
Atrial septal defect 51 test
Atrial septal defect 61 test
Atrial septal defect 71 test
Atrial septal defect 81 test
Atrial standstill 12 tests
Atrial standstill 21 test
Atrioventricular septal defect1 test
Atypical glycine encephalopathy1 test
Auditory neuropathy, autosomal dominant 31 test
Autism, susceptibility to, 151 test
Autism, susceptibility to, 161 test
Autism, susceptibility to, 51 test
Autism, susceptibility to, X-linked 21 test
Autoimmune lymphoproliferative syndrome type 42 tests
Autoinflammation with arthritis and dyskeratosis1 test
Autosomal dominant Alport syndrome1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant distal renal tubular acidosis1 test
Autosomal dominant hypocalcemia 21 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome2 tests
Autosomal dominant lamellar ichthyosis1 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 2B2 tests
Autosomal dominant nonsyndromic hearing loss 3A2 tests
Autosomal dominant nonsyndromic hearing loss 3B2 tests
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal dominant nonsyndromic hearing loss 651 test
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant palmoplantar keratoderma and congenital alopecia1 test
Autosomal dominant Parkinson disease 11 test
Autosomal dominant Parkinson disease 41 test
Autosomal dominant Parkinson disease 81 test
Autosomal dominant Robinow syndrome 11 test
Autosomal dominant vitreoretinochoroidopathy1 test
Autosomal recessive Alport syndrome2 tests
Autosomal recessive amelia1 test
Autosomal recessive ataxia, Beauce type1 test
Autosomal recessive bestrophinopathy1 test
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1 test
Autosomal recessive congenital ichthyosis 11 test
Autosomal recessive congenital ichthyosis 101 test
Autosomal recessive congenital ichthyosis 111 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 distal spinal muscular atrophy 11 test
Autosomal recessive DOPA responsive dystonia1 test
Autosomal recessive early-onset Parkinson disease 231 test
Autosomal recessive early-onset Parkinson disease 61 test
Autosomal recessive early-onset Parkinson disease 71 test
Autosomal recessive hypophosphatemic bone disease1 test
Autosomal recessive inherited pseudoxanthoma elasticum1 test
Autosomal recessive keratitis-ichthyosis-deafness syndrome1 test
Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
Autosomal recessive nonsyndromic hearing loss 161 test
Autosomal recessive nonsyndromic hearing loss 1A6 tests
Autosomal recessive nonsyndromic hearing loss 1B2 tests
Autosomal recessive nonsyndromic hearing loss 221 test
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive nonsyndromic hearing loss 861 test
Autosomal recessive nonsyndromic hearing loss 971 test
Autosomal recessive osteopetrosis 11 test
Autosomal recessive osteopetrosis 21 test
Autosomal recessive osteopetrosis 81 test
Autosomal recessive proximal renal tubular acidosis1 test
Autosomal recessive spastic paraplegia type 781 test
Autosomal recessive spinocerebellar ataxia 121 test
Autosomal recessive spinocerebellar ataxia 141 test
Autosomal recessive spinocerebellar ataxia 161 test
Autosomal recessive spinocerebellar ataxia 201 test
Autosomal recessive spinocerebellar ataxia 71 test
Avascular necrosis of femoral head, primary, 21 test
Baller-Gerold syndrome1 test
BAP1-related tumor predisposition syndrome1 test
Bardet-Biedl syndrome 11 test
Bardet-Biedl syndrome 111 test
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 142 tests
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 171 test
Bardet-Biedl syndrome 181 test
Bardet-Biedl syndrome 21 test
Bardet-Biedl syndrome 61 test
Bartter disease type 21 test
Bartter disease type 51 test
Basal cell carcinoma, susceptibility to, 13 tests
Basal cell carcinoma, susceptibility to, 72 tests
Beaded hair3 tests
Beare-Stevenson cutis gyrata syndrome1 test
Benign familial hematuria2 tests
Bent bone dysplasia syndrome 11 test
Bethlem myopathy 1A1 test
Birt-Hogg-Dube syndrome2 tests
Blepharocheilodontic syndrome 12 tests
Blepharophimosis - intellectual disability syndrome, MKB type1 test
BLOOD GROUP--DIEGO SYSTEM1 test
BLOOD GROUP--FROESE1 test
BLOOD GROUP--SWANN SYSTEM1 test
BLOOD GROUP--WALDNER TYPE1 test
BLOOD GROUP--WRIGHT ANTIGEN1 test
Bone marrow failure syndrome 52 tests
Bone osteosarcoma5 tests
Brachyrachia (short spine dysplasia)1 test
Branchiooculofacial syndrome1 test
Breast-ovarian cancer, familial, susceptibility to, 12 tests
Breast-ovarian cancer, familial, susceptibility to, 22 tests
Breast-ovarian cancer, familial, susceptibility to, 32 tests
Breast-ovarian cancer, familial, susceptibility to, 42 tests
Brittle cornea syndrome 11 test
Brittle cornea syndrome 21 test
Bronchiectasis with or without elevated sweat chloride 12 tests
Brooke-Spiegler syndrome1 test
Brugada syndrome 12 tests
Brugada syndrome 21 test
Brugada syndrome 31 test
Brugada syndrome 41 test
Brugada syndrome 51 test
Brugada syndrome 71 test
Brugada syndrome 91 test
Café-au-lait macules with pulmonary stenosis2 tests
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Camptomelic dysplasia1 test
Capillary infantile hemangioma1 test
Capillary malformation-arteriovenous malformation 12 tests
Capillary malformation-arteriovenous malformation 21 test
Carcinoma of pancreas7 tests
Cardiac arrhythmia, ankyrin-B-related1 test
Cardiac valvular defect, developmental1 test
Cardiac valvular dysplasia, X-linked2 tests
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11 test
Cardiofaciocutaneous syndrome 11 test
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy, dilated, 2E1 test
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis2 tests
Cardiomyopathy, familial restrictive, 11 test
Cardiomyopathy, familial restrictive, 31 test
Cardiomyopathy-hypotonia-lactic acidosis syndrome1 test
Carney complex, type 12 tests
Carney-Stratakis syndrome3 tests
Carnitine acylcarnitine translocase deficiency1 test
Carpal tunnel syndrome 11 test
Cataract 1 multiple types1 test
Cataract 19 multiple types1 test
Cataract 301 test
Cataract 361 test
Cataract 381 test
Cataract 411 test
Cataract 431 test
Cataract 46 juvenile-onset1 test
Catecholaminergic polymorphic ventricular tachycardia 12 tests
Catecholaminergic polymorphic ventricular tachycardia 21 test
Catecholaminergic polymorphic ventricular tachycardia 31 test
Catecholaminergic polymorphic ventricular tachycardia 41 test
Catecholaminergic polymorphic ventricular tachycardia 51 test
CBL-related disorder1 test
CEDNIK syndrome1 test
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 21 test
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1 test
Cerebral arteriovenous malformation1 test
Cerebral cavernous malformation2 tests
Cerebral cavernous malformation 22 tests
Cerebral cavernous malformation 32 tests
Cerebro-costo-mandibular syndrome1 test
Cerebrooculofacioskeletal syndrome 21 test
Cerebroretinal microangiopathy with calcifications and cysts 21 test
Cervical cancer1 test
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1 test
Charcot-Marie-Tooth disease axonal type 2C1 test
Charcot-Marie-Tooth disease axonal type 2F1 test
Charcot-Marie-Tooth disease axonal type 2L1 test
Charcot-Marie-Tooth disease axonal type 2S1 test
Charcot-Marie-Tooth disease axonal type 2T1 test
Charcot-Marie-Tooth disease axonal type 2X1 test
Charcot-Marie-Tooth disease dominant intermediate D1 test
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1C1 test
Charcot-Marie-Tooth disease type 1E2 tests
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 2E1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 2Y1 test
Charcot-Marie-Tooth disease type 4C1 test
Charcot-Marie-Tooth disease type 4D1 test
Charcot-Marie-Tooth disease type 4F1 test
Charcot-Marie-Tooth disease X-linked dominant 11 test
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1 test
Charcot-Marie-Tooth disease, axonal, Type 2HH1 test
Charcot-Marie-Tooth disease, dominant intermediate G1 test
Charcot-Marie-Tooth disease, type IA2 tests
Child syndrome1 test
Cholestasis-pigmentary retinopathy-cleft palate syndrome1 test
Chondrodysplasia punctata 2 X-linked dominant1 test
Chorea-acanthocytosis1 test
Choroid plexus papilloma2 tests
Choroidal dystrophy, central areolar 21 test
Choroideremia1 test
Christianson syndrome1 test
Chuvash polycythemia2 tests
CK syndrome1 test
CLAPO syndrome1 test
Clark-Baraitser syndrome1 test
Classic dopamine transporter deficiency syndrome1 test
CLOVES syndrome1 test
COACH syndrome 11 test
Coffin-Siris syndrome 101 test
Coffin-Siris syndrome 51 test
Coffin-Siris syndrome 81 test
Cohen syndrome1 test
Colorectal cancer13 tests
Colorectal cancer, hereditary nonpolyposis, type 22 tests
Colorectal cancer, hereditary nonpolyposis, type 62 tests
Colorectal cancer, susceptibility to, 102 tests
Colorectal cancer, susceptibility to, 122 tests
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 22 tests
Complex cortical dysplasia with other brain malformations 21 test
Complex cortical dysplasia with other brain malformations 41 test
Complex cortical dysplasia with other brain malformations 51 test
Complex cortical dysplasia with other brain malformations 61 test
Cone-rod dystrophy 191 test
Cone-rod dystrophy 221 test
Cone-rod dystrophy 31 test
Congenital adrenal hypoplasia, X-linked1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
Congenital contractural arachnodactyly1 test
Congenital diarrhea 5 with tufting enteropathy2 tests
Congenital heart defects and ectodermal dysplasia1 test
Congenital heart defects, multiple types, 21 test
Congenital heart defects, multiple types, 41 test
Congenital heart defects, multiple types, 51 test
Congenital heart defects, multiple types, 71 test
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
Congenital macrodactylia1 test
Congenital muscular dystrophy due to LMNA mutation1 test
Congenital muscular hypertrophy-cerebral syndrome1 test
Congenital myasthenic syndrome 161 test
Congenital myasthenic syndrome 71 test
Congenital reticular ichthyosiform erythroderma1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Congenital stationary night blindness 1C1 test
Congenital stationary night blindness autosomal dominant 11 test
Conotruncal heart malformations3 tests
Corneal dystrophy, Fuchs endothelial, 32 tests
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome1 test
Cornelia de Lange syndrome 31 test
Cortical dysplasia-focal epilepsy syndrome1 test
Costello syndrome1 test
Cowden syndrome 12 tests
Cowden syndrome 51 test
Cowden syndrome 61 test
Coxopodopatellar syndrome1 test
Craniodiaphyseal dysplasia, autosomal dominant1 test
Cranioectodermal dysplasia 21 test
Cranioectodermal dysplasia 41 test
Craniofacial anomalies and anterior segment dysgenesis syndrome1 test
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11 test
Craniometaphyseal dysplasia, autosomal recessive1 test
Craniosynostosis 61 test
Craniosynostosis 71 test
Crouzon syndrome1 test
Crouzon syndrome-acanthosis nigricans syndrome1 test
Cryohydrocytosis1 test
Cryptosporidiosis-chronic cholangitis-liver disease syndrome1 test
Cutis laxa, autosomal dominant 11 test
Cutis laxa, autosomal recessive, type 1B1 test
Cystic fibrosis3 tests
Cystinuria2 tests
Danon disease1 test
Deafness, congenital heart defects, and posterior embryotoxon1 test
Dejerine-Sottas disease4 tests
Dermatitis, atopic, 21 test
Dermatofibrosis lenticularis disseminata1 test
Dermatopathia pigmentosa reticularis2 tests
DeSanto-Shinawi syndrome due to WAC point mutation1 test
Desbuquois dysplasia 21 test
Desmin-related myofibrillar myopathy1 test
Desmoid disease, hereditary2 tests
Developmental and epileptic encephalopathy 991 test
Developmental and epileptic encephalopathy, 151 test
Developmental and epileptic encephalopathy, 161 test
Developmental and epileptic encephalopathy, 181 test
Developmental and epileptic encephalopathy, 281 test
Developmental and epileptic encephalopathy, 41 test
Developmental and epileptic encephalopathy, 441 test
Developmental and epileptic encephalopathy, 51 test
Developmental and epileptic encephalopathy, 521 test
Developmental and epileptic encephalopathy, 561 test
Developmental and epileptic encephalopathy, 681 test
Developmental and epileptic encephalopathy, 831 test
Developmental and epileptic encephalopathy, 841 test
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
Developmental delay with variable intellectual impairment and behavioral abnormalities1 test
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1 test
Diabetes insipidus, nephrogenic, autosomal1 test
Diabetes insipidus, nephrogenic, X-linked1 test
Diaphragmatic hernia 31 test
Diaphyseal dysplasia1 test
Diffuse nonepidermolytic palmoplantar keratoderma1 test
DiGeorge syndrome1 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1BB2 tests
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1D1 test
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1E2 tests
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1GG2 tests
Dilated cardiomyopathy 1HH1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1JJ1 test
Dilated cardiomyopathy 1KK1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1NN1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1U2 tests
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Distal myopathy, Tateyama type1 test
Dominant dystrophic epidermolysis bullosa with absence of skin2 tests
DOORS syndrome1 test
Dowling-Degos disease 12 tests
Drash syndrome1 test
Dystonia 121 test
Dystonia 161 test
Dystonia 271 test
Dystonia 28, childhood-onset1 test
Dystonia 321 test
Dystonia 51 test
Early-onset generalized limb-onset dystonia1 test
Early-onset myopathy with fatal cardiomyopathy1 test
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome1 test
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome2 tests
EAST syndrome1 test
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant1 test
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1 test
Ectopia lentis 1, isolated, autosomal dominant2 tests
Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
Ehlers-Danlos syndrome, arthrochalasia type1 test
Ehlers-danlos syndrome, arthrochalasia type, 22 tests
Ehlers-Danlos syndrome, cardiac valvular type2 tests
Ehlers-Danlos syndrome, classic type, 12 tests
Ehlers-Danlos syndrome, classic type, 21 test
Ehlers-Danlos syndrome, dermatosparaxis type1 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, kyphoscoliotic type, 21 test
Ehlers-Danlos syndrome, musculocontractural type 11 test
Ehlers-Danlos syndrome, spondylocheirodysplastic type1 test
Ehlers-Danlos syndrome, spondylodysplastic type, 11 test
Ehlers-Danlos syndrome, spondylodysplastic type, 21 test
Ehlers-Danlos syndrome, type 42 tests
Elevated circulating creatine kinase concentration1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81 test
Endometrial carcinoma5 tests
Epidermal nevus4 tests
Epidermolysis bullosa pruriginosa2 tests
Epidermolysis bullosa simplex 1A, generalized severe2 tests
Epidermolysis bullosa simplex 1C, localized2 tests
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive2 tests
Epidermolysis bullosa simplex 2A, generalized severe2 tests
Epidermolysis bullosa simplex 2B, generalized intermediate2 tests
Epidermolysis bullosa simplex 2C, localized2 tests
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive2 tests
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1 test
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
Epidermolysis bullosa simplex 5B, with muscular dystrophy1 test
Epidermolysis bullosa simplex 5C, with pyloric atresia1 test
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss1 test
Epidermolysis bullosa simplex 7, with nephropathy and deafness1 test
Epidermolysis bullosa simplex due to plakophilin deficiency1 test
Epidermolysis bullosa simplex with migratory circinate erythema2 tests
Epidermolysis bullosa simplex with mottled pigmentation2 tests
Epidermolysis bullosa simplex with nail dystrophy1 test
Epidermolysis bullosa simplex, Koebner type2 tests
Epidermolysis bullosa simplex, Ogna type1 test
Epidermolysis bullosa, junctional 2A, intermediate1 test
Epidermolysis bullosa, junctional 2B, severe1 test
Epidermolysis bullosa, junctional 3A, intermediate1 test
Epidermolysis bullosa, junctional 3B, severe1 test
Epidermolysis bullosa, junctional 4, intermediate1 test
Epidermolysis bullosa, junctional 5A, intermediate1 test
Epidermolysis bullosa, junctional 6, with pyloric atresia1 test
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1 test
Epidermolytic hyperkeratosis 12 tests
Epilepsy, familial temporal lobe, 11 test
Epilepsy, progressive myoclonic, 121 test
Episodic pain syndrome, familial, 21 test
Epithelial recurrent erosion dystrophy1 test
Epsilon-trimethyllysine hydroxylase deficiency1 test
Erythrokeratodermia variabilis et progressiva 12 tests
Erythrokeratodermia variabilis et progressiva 21 test
Erythrokeratodermia variabilis et progressiva 31 test
Erythrokeratodermia variabilis et progressiva 41 test
Erythrokeratodermia variabilis et progressiva 51 test
Erythrokeratodermia variabilis et progressiva 71 test
Euthyroid goiter1 test
Fabry disease1 test
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome2 tests
Familial adenomatous polyposis 12 tests
Familial adenomatous polyposis 22 tests
Familial adenomatous polyposis 31 test
Familial adenomatous polyposis 41 test
Familial apolipoprotein C-II deficiency1 test
Familial atrial myxoma2 tests
Familial benign pemphigus1 test
Familial cancer of breast18 tests
Familial cylindromatosis1 test
Familial digital arthropathy-brachydactyly1 test
Familial episodic pain syndrome with predominantly lower limb involvement1 test
Familial episodic pain syndrome with predominantly upper body involvement1 test
Familial hyperaldosteronism type III1 test
Familial hypobetalipoproteinemia 11 test
Familial hypocalciuric hypercalcemia 21 test
Familial infantile myoclonic epilepsy1 test
Familial isolated deficiency of vitamin E1 test
Familial juvenile hyperuricemic nephropathy type 11 test
Familial medullary thyroid carcinoma2 tests
Familial meningioma6 tests
Familial multiple nevi flammei1 test
Familial partial lipodystrophy, Dunnigan type1 test
Familial scaphocephaly syndrome, McGillivray type1 test
Familial spontaneous pneumothorax2 tests
Familial type 3 hyperlipoproteinemia1 test
Familial type 5 hyperlipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type1 test
Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
Fanconi anemia complementation group D12 tests
Fanconi anemia complementation group J2 tests
Fanconi anemia complementation group N2 tests
Fanconi anemia complementation group O2 tests
Fanconi anemia complementation group T1 test
Fanconi anemia, complementation group S2 tests
Fanconi renotubular syndrome 21 test
Fasting plasma glucose level quantitative trait locus 51 test
FG syndrome 11 test
FG syndrome 22 tests
Fibromatosis, gingival, 11 test
Fibromuscular dysplasia, multifocal2 tests
Fish-eye disease1 test
Floating-Harbor syndrome1 test
Focal dermal hypoplasia1 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 61 test
Frasier syndrome1 test
Frontometaphyseal dysplasia 12 tests
Frontotemporal dementia2 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 31 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 61 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 81 test
Fuhrmann syndrome1 test
Fumarase deficiency1 test
Gallbladder disease 41 test
Galloway-Mowat syndrome 11 test
Gastric adenocarcinoma and proximal polyposis of the stomach2 tests
Gastric cancer7 tests
Gastrointestinal stromal tumor2 tests
Geleophysic dysplasia 22 tests
Generalized dominant dystrophic epidermolysis bullosa2 tests
Generalized epilepsy with febrile seizures plus, type 11 test
Generalized epilepsy with febrile seizures plus, type 91 test
Germ cell tumor of testis3 tests
Ghosal hematodiaphyseal dysplasia1 test
Glaucoma 3, primary congenital, E1 test
Glaucoma, normal tension, susceptibility to1 test
Glioma susceptibility 12 tests
Glioma susceptibility 22 tests
Glioma susceptibility 32 tests
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1 test
Global developmental delay with speech and behavioral abnormalities1 test
Glomerulopathy with fibronectin deposits 21 test
Glomuvenous malformation1 test
Gorlin syndrome2 tests
Grange syndrome1 test
Greenberg dysplasia1 test
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1 test
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
GTP cyclohydrolase I deficiency with hyperphenylalaninemia1 test
Guillain-Barre syndrome, familial2 tests
Haim-Munk syndrome1 test
HAIR MORPHOLOGY 11 test
Hajdu-Cheney syndrome1 test
Hao-Fountain syndrome1 test
Heart defect - tongue hamartoma - polysyndactyly syndrome1 test
Heart-hand syndrome, Slovenian type1 test
Helicoid peripapillary chorioretinal degeneration1 test
Hepatocellular carcinoma6 tests
Hereditary diffuse gastric adenocarcinoma2 tests
Hereditary disease57 tests
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary liability to pressure palsies2 tests
Hereditary lymphedema type I1 test
Hereditary motor and sensory neuropathy, Okinawa type1 test
Hereditary mucoepithelial dysplasia1 test
Hereditary pancreatitis4 tests
Hereditary sensory and autonomic neuropathy type 61 test
Hereditary sensory and autonomic neuropathy type 71 test
Hereditary spastic paraplegia 101 test
Hereditary spastic paraplegia 111 test
Hereditary spastic paraplegia 151 test
Hereditary spastic paraplegia 301 test
Hereditary spastic paraplegia 41 test
Hereditary spastic paraplegia 491 test
Hereditary spastic paraplegia 571 test
Hereditary spastic paraplegia 71 test
Hereditary spastic paraplegia 81 test
Hereditary spherocytosis type 41 test
Heterotaxy, visceral, 1, X-linked1 test
Heterotaxy, visceral, 5, autosomal1 test
Heterotaxy, visceral, 7, autosomal1 test
Heterotaxy, visceral, 8, autosomal1 test
Heterotopia, periventricular, X-linked dominant2 tests
Hidrotic ectodermal dysplasia syndrome2 tests
High density lipoprotein cholesterol level quantitative trait locus 121 test
Hirschsprung disease, susceptibility to, 12 tests
Hirschsprung disease, susceptibility to, 31 test
Hirschsprung disease, susceptibility to, 41 test
Holoprosencephaly 41 test
Holoprosencephaly 51 test
Holoprosencephaly 71 test
Holt-Oram syndrome1 test
Huntington disease1 test
Hutchinson-Gilford syndrome1 test
Hydrocephalus, congenital, 3, with brain anomalies1 test
Hydrolethalus syndrome 21 test
Hypercalcemia, infantile, 21 test
Hypercholesterolemia, autosomal dominant, 31 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hypercholesterolemia, familial, 12 tests
Hypercholesterolemia, familial, 41 test
Hyperekplexia 31 test
Hyperglycinuria3 tests
Hyperimmunoglobulin D with periodic fever1 test
Hyperkalemic periodic paralysis1 test
Hyperlipidemia due to hepatic triglyceride lipase deficiency1 test
Hyperlipidemia, familial combined, LPL related1 test
Hyperlipoproteinemia, type 1D1 test
Hyperlipoproteinemia, type I1 test
Hypermanganesemia with dystonia 21 test
Hypermanganesemia with dystonia, polycythemia, and cirrhosis1 test
Hyperostosis cranialis interna1 test
Hyperparathyroidism, transient neonatal1 test
Hyperphosphatasemia with bone disease1 test
Hyperthyroxinemia, dystransthyretinemic1 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertriglyceridemia 11 test
Hypertriglyceridemia 21 test
Hypertrophic cardiomyopathy 13 tests
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 111 test
Hypertrophic cardiomyopathy 131 test
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 151 test
Hypertrophic cardiomyopathy 161 test
Hypertrophic cardiomyopathy 171 test
Hypertrophic cardiomyopathy 181 test
Hypertrophic cardiomyopathy 21 test
Hypertrophic cardiomyopathy 201 test
Hypertrophic cardiomyopathy 251 test
Hypertrophic cardiomyopathy 31 test
Hypertrophic cardiomyopathy 42 tests
Hypertrophic cardiomyopathy 61 test
Hypertrophic cardiomyopathy 71 test
Hypertrophic cardiomyopathy 81 test
Hypertrophic cardiomyopathy 91 test
Hypertrophic osteoarthropathy, primary, autosomal dominant1 test
Hypertrophic osteoarthropathy, primary, autosomal recessive, 21 test
Hypoalphalipoproteinemia, primary, 11 test
Hypoalphalipoproteinemia, primary, 21 test
Hypoalphalipoproteinemia, primary, 2, intermediate1 test
Hypochondroplasia1 test
Hypogonadotropic hypogonadism 26 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 121 test
Hypophosphatemic nephrolithiasis/osteoporosis 11 test
Hypophosphatemic rickets, autosomal recessive, 21 test
Hypopigmentation-punctate palmoplantar keratoderma syndrome1 test
Hypoplastic left heart syndrome 11 test
Hypoplastic left heart syndrome 21 test
Hypothyroidism, congenital, nongoitrous, 51 test
Hypotrichosis 21 test
Hypotrichosis-lymphedema-telangiectasia syndrome1 test
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
Ichthyosis bullosa of Siemens1 test
Ichthyosis hystrix of Curth-Macklin1 test
Ichthyosis prematurity syndrome1 test
Ichthyosis vulgaris1 test
Ichthyosis, annular epidermolytic 12 tests
Ichthyosis, congenital, autosomal recessive 121 test
Ichthyosis, congenital, autosomal recessive 131 test
Ichthyosis, congenital, autosomal recessive 141 test
Ichthyosis, hystrix-like, with hearing loss2 tests
IFAP syndrome 1, with or without BRESHECK syndrome1 test
IFAP syndrome 21 test
IgE responsiveness, atopic1 test
Iminoglycinuria3 tests
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11 test
Infantile cortical hyperostosis1 test
Infantile nephronophthisis1 test
Inflammatory bowel disease, immunodeficiency, and encephalopathy1 test
Inherited obesity1 test
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1 test
Intellectual disability and myopathy syndrome1 test
Intellectual disability, autosomal dominant 151 test
Intellectual disability, autosomal dominant 271 test
Intellectual disability, autosomal dominant 411 test
Intellectual disability, autosomal dominant 51 test
Intellectual disability, autosomal dominant 91 test
Intellectual disability, autosomal recessive 121 test
Intellectual disability, autosomal recessive 131 test
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked2 tests
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency2 tests
Isolated focal cortical dysplasia type II4 tests
Isolated focal non-epidermolytic palmoplantar keratoderma1 test
Isolated microphthalmia 21 test
Jackson-Weiss syndrome1 test
Jervell and Lange-Nielsen syndrome 12 tests
Jervell and Lange-Nielsen syndrome 22 tests
Joubert syndrome 131 test
Joubert syndrome 141 test
Joubert syndrome 161 test
Joubert syndrome 181 test
Joubert syndrome 21 test
Joubert syndrome 201 test
Joubert syndrome 241 test
Joubert syndrome 281 test
Joubert syndrome 321 test
Joubert syndrome 371 test
Joubert syndrome 391 test
Joubert syndrome 51 test
Joubert syndrome 61 test
Junctional epidermolysis bullosa gravis of Herlitz1 test
Junctional epidermolysis bullosa with pyloric atresia1 test
Junctional epidermolysis bullosa, non-Herlitz type1 test
Juvenile myelomonocytic leukemia4 tests
Juvenile polyposis syndrome4 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
Kabuki syndrome 11 test
Kahrizi syndrome1 test
Karyomegalic interstitial nephritis1 test
Keratoconus 11 test
Keratoconus 91 test
Keratosis follicularis1 test
Keratosis follicularis spinulosa decalvans, X-linked1 test
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1 test
Keratosis palmoplantaris striata 22 tests
Keratosis palmoplantaris striata 31 test
Kindler syndrome1 test
Kleefstra syndrome 21 test
Knuckle pads, deafness AND leukonychia syndrome2 tests
Koolen-de Vries syndrome1 test
Kufor-Rakeb syndrome1 test
Kury-Isidor syndrome1 test
L-2-hydroxyglutaric aciduria1 test
LADD syndrome 12 tests
LAMB2-related infantile-onset nephrotic syndrome1 test
Langer mesomelic dysplasia syndrome1 test
Large congenital melanocytic nevus2 tests
Laryngo-onycho-cutaneous syndrome1 test
Laurin-Sandrow syndrome1 test
Leber congenital amaurosis 101 test
Leber congenital amaurosis 111 test
Leber congenital amaurosis 191 test
Leber congenital amaurosis 21 test
Left ventricular noncompaction 102 tests
Left ventricular noncompaction 71 test
Left ventricular noncompaction 81 test
Legius syndrome2 tests
LEOPARD syndrome 11 test
LEOPARD syndrome 21 test
LEOPARD syndrome 31 test
Leri-Weill dyschondrosteosis1 test
Lethal acantholytic epidermolysis bullosa2 tests
Lethal congenital glycogen storage disease of heart1 test
Lethal tight skin contracture syndrome1 test
Leukocyte adhesion deficiency type II1 test
Leukodystrophy, hypomyelinating, 141 test
Leukodystrophy, hypomyelinating, 161 test
Lewy body dementia1 test
Li-Fraumeni syndrome 12 tests
Li-Fraumeni syndrome 22 tests
Linear nevus sebaceous syndrome3 tests
Lipase deficiency, combined1 test
Lipodystrophy, partial, acquired, susceptibility to1 test
Lipoic acid synthetase deficiency1 test
Lipoprotein glomerulopathy1 test
Lipoyl transferase 1 deficiency1 test
Lissencephaly 81 test
Lissencephaly due to LIS1 mutation1 test
Lissencephaly type 1 due to doublecortin gene mutation1 test
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 22 tests
Loeys-Dietz syndrome 41 test
Long QT syndrome 12 tests
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 22 tests
Long QT syndrome 32 tests
Long QT syndrome 52 tests
Long QT syndrome 62 tests
Long qt syndrome 81 test
Long QT syndrome 91 test
Lopes-Maciel-Rodan syndrome1 test
Lung cancer3 tests
Lymphangiomyomatosis4 tests
Lymphatic malformation 71 test
Lynch syndrome 12 tests
Lynch syndrome 42 tests
Lynch syndrome 52 tests
Lynch syndrome 82 tests
LZTR1-related schwannomatosis1 test
Macrocephaly-autism syndrome2 tests
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macular degeneration, early-onset1 test
Macular degeneration, X-linked atrophic1 test
Malaria, susceptibility to1 test
Malignant hyperthermia, susceptibility to, 51 test
Malignant tumor of esophagus3 tests
Malignant tumor of prostate8 tests
Malignant tumor of urinary bladder4 tests
Mandibular hypoplasia-deafness-progeroid syndrome2 tests
Mandibuloacral dysplasia with type A lipodystrophy1 test
Mandibuloacral dysplasia with type B lipodystrophy1 test
Marbach-Rustad progeroid syndrome1 test
Marfan syndrome2 tests
MASA syndrome1 test
MASS syndrome2 tests
Mast syndrome1 test
McCune-Albright syndrome1 test
McKusick-Kaufman syndrome1 test
Meacham syndrome1 test
Meckel syndrome 131 test
Meckel syndrome, type 11 test
Meckel syndrome, type 111 test
Meckel syndrome, type 21 test
Meckel syndrome, type 31 test
Meckel syndrome, type 41 test
Meckel syndrome, type 81 test
MEDNIK syndrome1 test
Medulloblastoma3 tests
Megacystis-microcolon-intestinal hypoperistalsis syndrome 11 test
Megacystis-microcolon-intestinal hypoperistalsis syndrome 21 test
Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
Melanoma and neural system tumor syndrome1 test
Melanoma, cutaneous malignant, susceptibility to, 13 tests
Melanoma, cutaneous malignant, susceptibility to, 21 test
Melanoma, cutaneous malignant, susceptibility to, 31 test
Melanoma-pancreatic cancer syndrome1 test
Melnick-Needles syndrome2 tests
Melorheostosis1 test
MEND syndrome1 test
Mesothelioma, malignant1 test
Metabolic syndrome X1 test
Metachondromatosis1 test
Metatropic dysplasia1 test
Mevalonic aciduria1 test
Microcephalic primordial dwarfism due to ZNF335 deficiency1 test
Microcephalic primordial dwarfism, Alazami type1 test
Microcephaly 18, primary, autosomal dominant1 test
Microcephaly 25, primary, autosomal recessive1 test
Microcephaly 26, primary, autosomal dominant1 test
Microcephaly 27, primary, autosomal dominant1 test
Microcephaly 4, primary, autosomal recessive1 test
Microcephaly and chorioretinopathy 11 test
Microcephaly and chorioretinopathy 31 test
Microcephaly, growth restriction, and increased sister chromatid exchange 21 test
Microcephaly, normal intelligence and immunodeficiency1 test
Microcephaly, short stature, and impaired glucose metabolism 11 test
Microcephaly-capillary malformation syndrome1 test
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1 test
Microphthalmia with limb anomalies1 test
Microphthalmia, isolated, with coloboma 31 test
Mismatch repair cancer syndrome 12 tests
Mismatch repair cancer syndrome 22 tests
Mismatch repair cancer syndrome 32 tests
Mismatch repair cancer syndrome 42 tests
Mitochondrial complex 2 deficiency, nuclear type 31 test
Mitochondrial complex 2 deficiency, nuclear type 41 test
Mitochondrial complex II deficiency, nuclear type 12 tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 21 test
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1 test
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 4b1 test
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1 test
Mowat-Wilson syndrome2 tests
Moyamoya disease 51 test
Mucopolysaccharidosis-plus syndrome1 test
Muenke syndrome1 test
Muir-Torré syndrome4 tests
Mulibrey nanism syndrome1 test
Mullerian aplasia and hyperandrogenism1 test
Multiple benign circumferential skin creases on limbs 11 test
Multiple cutaneous and mucosal venous malformations1 test
Multiple endocrine neoplasia type 2A2 tests
Multiple endocrine neoplasia type 2B2 tests
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 12 tests
Multiple epiphyseal dysplasia, Al-Gazali type1 test
Multiple self-healing squamous epithelioma1 test
Multiple sulfatase deficiency1 test
Multisystemic smooth muscle dysfunction syndrome1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31 test
Mutilating keratoderma2 tests
Myasthenic syndrome, congenital, 25, presynaptic1 test
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive1 test
MYH7-related skeletal myopathy1 test
Myhre syndrome2 tests
Myoclonic dystonia 111 test
Myoclonic-astatic epilepsy1 test
Myoclonus, intractable, neonatal1 test
Myofibrillar myopathy 111 test
Myofibrillar myopathy 41 test
Myofibrillar myopathy 61 test
Myopathy, distal, with rimmed vacuoles1 test
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy1 test
Myopathy, myofibrillar, 9, with early respiratory failure1 test
Myopathy, myosin storage, autosomal recessive1 test
Myopia 21, autosomal dominant1 test
Myopia 24, autosomal dominant1 test
Myopia 61 test
Myosin storage myopathy1 test
MYPN-related myopathy1 test
Naegeli-Franceschetti-Jadassohn syndrome2 tests
Nail-patella syndrome1 test
Nail-patella-like renal disease1 test
Nasopharyngeal carcinoma2 tests
Naxos disease2 tests
Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
Nephrogenic syndrome of inappropriate antidiuresis1 test
Nephronophthisis 111 test
Nephronophthisis 121 test
Nephronophthisis 131 test
Nephronophthisis 141 test
Nephronophthisis 161 test
Nephrotic syndrome 161 test
Nephrotic syndrome, type 201 test
Nephrotic syndrome, type 41 test
Nephrotic syndrome, type 81 test
Netherton syndrome1 test
Neuroblastoma, susceptibility to, 11 test
Neurocutaneous melanocytosis1 test
Neurodegeneration with ataxia and late-onset optic atrophy2 tests
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1 test
Neurodegeneration with brain iron accumulation 51 test
Neurofibromatosis, familial spinal2 tests
Neurofibromatosis, type 12 tests
Neurofibromatosis, type 22 tests
Neurofibromatosis-Noonan syndrome2 tests
Neurogenic scapuloperoneal syndrome, Kaeser type1 test
Neurohypophyseal diabetes insipidus1 test
Neuronal ceroid lipofuscinosis 21 test
Neuronopathy, distal hereditary motor, autosomal dominant 81 test
Neuronopathy, distal hereditary motor, autosomal recessive 81 test
Neuronopathy, distal hereditary motor, type 2A1 test
Neuronopathy, distal hereditary motor, type 2B1 test
Neuronopathy, distal hereditary motor, type 2C1 test
Neuropathy, congenital hypomyelinating, 21 test
Neuropathy, hereditary motor and sensory, type 6A1 test
Neuropathy, hereditary sensory and autonomic, type 1A1 test
Neuropathy, hereditary sensory and autonomic, type 1C1 test
Neuropathy, hereditary sensory and autonomic, type 2A1 test
Neuropathy, hereditary sensory and autonomic, type 2B1 test
Neuropathy, hereditary sensory, type 2C1 test
Neutral 1 amino acid transport defect1 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C11 test
Nijmegen breakage syndrome-like disorder1 test
Nonpapillary renal cell carcinoma5 tests
Nonsyndromic congenital nail disorder 82 tests
Noonan syndrome 11 test
Noonan syndrome 101 test
Noonan syndrome 111 test
Noonan syndrome 121 test
Noonan syndrome 131 test
Noonan syndrome 21 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 91 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Noonan syndrome-like disorder with loose anagen hair 21 test
Norum disease1 test
Oculodentodigital dysplasia1 test
Oculodentodigital dysplasia, autosomal recessive1 test
Odonto-onycho-dermal dysplasia1 test
Odontochondrodysplasia 11 test
Olmsted syndrome 11 test
Olmsted syndrome 21 test
Olmsted syndrome, X-linked1 test
Optic atrophy 111 test
Optic atrophy 13 with retinal and foveal abnormalities1 test
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Orofacial-digital syndrome IV1 test
Orofaciodigital syndrome 161 test
Osteofibrous dysplasia1 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 141 test
Osteogenesis imperfecta type 151 test
Osteogenesis imperfecta type 171 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III3 tests
Osteogenesis imperfecta with normal sclerae, dominant form3 tests
Osteogenesis imperfecta, perinatal lethal3 tests
Osteogenesis imperfecta, type 181 test
Osteogenesis imperfecta, type 191 test
Osteoporosis3 tests
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO1 test
Oto-palato-digital syndrome, type I2 tests
Oto-palato-digital syndrome, type II2 tests
Ovarian neoplasm4 tests
Pachyonychia congenita 11 test
Pachyonychia congenita 21 test
Pachyonychia congenita 31 test
Pachyonychia congenita 41 test
Paget disease of bone 31 test
Palmoplantar keratoderma i, striate, focal, or diffuse1 test
Palmoplantar keratoderma, Bothnian type1 test
Palmoplantar keratoderma, epidermolytic2 tests
Palmoplantar keratoderma, Nagashima type1 test
Palmoplantar keratoderma, nonepidermolytic, focal 11 test
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse1 test
Palmoplantar keratoderma, punctate type 1A1 test
Palmoplantar keratoderma-deafness syndrome2 tests
Palmoplantar keratoderma-esophageal carcinoma syndrome1 test
Pancreatic cancer, susceptibility to, 22 tests
Pancreatic cancer, susceptibility to, 32 tests
Pancreatic cancer, susceptibility to, 42 tests
Papillary renal cell carcinoma type 11 test
Papillon-Lefèvre syndrome1 test
Paragangliomas 11 test
Paragangliomas 31 test
Paragangliomas 41 test
Paragangliomas 52 tests
Paramyotonia congenita of Von Eulenburg1 test
Parastremmatic dwarfism1 test
Parkinson disease 5, autosomal dominant, susceptibility to2 tests
Paroxysmal extreme pain disorder1 test
Patent ductus arteriosus 31 test
Patterned macular dystrophy 11 test
Patterned macular dystrophy 21 test
PCWH syndrome1 test
Peeling skin syndrome 11 test
Peeling skin syndrome 41 test
Peeling skin syndrome 51 test
Peeling skin syndrome type A1 test
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome1 test
PEHO syndrome1 test
Pelger-Huët anomaly1 test
Pelviscapular dysplasia1 test
Periodontitis, aggressive 11 test
Peroxisome biogenesis disorder 14B1 test
Peutz-Jeghers syndrome2 tests
Pfeiffer syndrome1 test
Pheochromocytoma10 tests
Phytanic acid storage disease1 test
Pick disease2 tests
Pierpont syndrome1 test
Pierson syndrome1 test
Pigmentary retinal dystrophy2 tests
Pigmented nodular adrenocortical disease, primary, 12 tests
Pitt-Hopkins syndrome2 tests
Pituitary adenoma 3, multiple types1 test
Pityriasis rubra pilaris1 test
Pleuropulmonary blastoma1 test
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 21 test
Polydactyly of a triphalangeal thumb1 test
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome2 tests
Polyposis syndrome, hereditary mixed, 22 tests
Pontocerebellar hypoplasia type 1A1 test
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 2B1 test
Pontocerebellar hypoplasia type 2C1 test
Pontocerebellar hypoplasia type 2E1 test
Pontocerebellar hypoplasia type 41 test
Pontocerebellar hypoplasia type 51 test
Pontocerebellar hypoplasia type 71 test
Pontocerebellar hypoplasia, type 111 test
Pontocerebellar hypoplasia, type 131 test
Pontocerebellar hypoplasia, type 2F1 test
Porokeratosis 1, Mibelli type1 test
Porokeratosis 3, disseminated superficial actinic type1 test
Porokeratosis 7, multiple types1 test
Porokeratosis 9, multiple types1 test
Potassium-aggravated myotonia1 test
Prader-Willi syndrome1 test
Premature ovarian failure 71 test
Pretibial dystrophic epidermolysis bullosa2 tests
Primary erythromelalgia1 test
Progeroid and marfanoid aspect-lipodystrophy syndrome2 tests
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 51 test
Progressive familial heart block, type 1A2 tests
Progressive myoclonic epilepsy type 91 test
Progressive osseous heteroplasia1 test
Progressive sclerosing poliodystrophy1 test
Prostate cancer, hereditary, 91 test
Proteasome-associated autoinflammatory syndrome 21 test
Proteus syndrome1 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoparathyroidism type 1B1 test
Pseudohypoparathyroidism type 1C1 test
Pseudohypoparathyroidism type I A1 test
Pseudopseudohypoparathyroidism1 test
Psoriasis 21 test
Pulmonary hypertension, primary, 11 test
Pulmonary venoocclusive disease 11 test
Radioulnar synostosis, nonsyndromic, susceptibility to1 test
Rapadilino syndrome1 test
RAPH BLOOD GROUP SYSTEM1 test
Recessive dystrophic epidermolysis bullosa2 tests
Regressive spondylometaphyseal dysplasia1 test
Renal carnitine transport defect1 test
Renal cysts and diabetes syndrome1 test
Renal hypodysplasia/aplasia 11 test
Renal tubular acidosis, distal, 4, with hemolytic anemia1 test
Renpenning syndrome1 test
Respiratory papillomatosis, juvenile recurrent, congenital1 test
Restrictive dermopathy 21 test
Retinal dystrophy and obesity1 test
Retinitis pigmentosa 11 test
Retinitis pigmentosa 101 test
Retinitis pigmentosa 111 test
Retinitis pigmentosa 191 test
Retinitis pigmentosa 21 test
Retinitis pigmentosa 201 test
Retinitis pigmentosa 251 test
Retinitis pigmentosa 31 test
Retinitis pigmentosa 391 test
Retinitis pigmentosa 41 test
Retinitis pigmentosa 501 test
Retinitis pigmentosa 71 test
Retinitis pigmentosa 741 test
Retinitis pigmentosa 761 test
Retinitis pigmentosa 87 with choroidal involvement1 test
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
Retinoblastoma1 test
Rett syndrome, congenital variant1 test
Reynolds syndrome1 test
Rhabdoid tumor predisposition syndrome 11 test
Rhabdomyosarcoma, embryonal, 21 test
RHYNS syndrome1 test
Rienhoff syndrome2 tests
Rippling muscle disease 21 test
Ritscher-Schinzel syndrome 11 test
Robinow-Sorauf syndrome1 test
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome1 test
Rothmund-Thomson syndrome type 21 test
Roussy-Lévy syndrome3 tests
Saethre-Chotzen syndrome2 tests
Sarcotubular myopathy1 test
Scapuloperoneal spinal muscular atrophy1 test
SchC6pf-Schulz-Passarge syndrome1 test
Schimke immuno-osseous dysplasia1 test
Schinzel phocomelia syndrome1 test
Schneckenbecken dysplasia1 test
Sclerosteosis 11 test
Sea-blue histiocyte syndrome1 test
Seborrheic keratosis1 test
Seckel syndrome 91 test
Sengers syndrome1 test
Senior-Loken syndrome 51 test
Senior-Loken syndrome 61 test
Senior-Loken syndrome 81 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
SERKAL syndrome1 test
Sessile serrated polyposis cancer syndrome1 test
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
Severe dermatitis-multiple allergies-metabolic wasting syndrome1 test
Severe early-childhood-onset retinal dystrophy1 test
Short QT syndrome type 12 tests
Short QT syndrome type 22 tests
Short QT syndrome type 32 tests
Short stature, microcephaly, and endocrine dysfunction1 test
Short-rib thoracic dysplasia 7 with or without polydactyly1 test
SHOX-related short stature1 test
Sick sinus syndrome 12 tests
Sick sinus syndrome 3, susceptibility to1 test
Sitosterolemia 11 test
Sitosterolemia 21 test
Sjögren-Larsson syndrome1 test
SLC35A2-congenital disorder of glycosylation1 test
Small cell lung carcinoma1 test
SMARCB1-related schwannomatosis3 tests
Sneddon syndrome1 test
Sodium serum level quantitative trait locus 11 test
Sorsby fundus dystrophy1 test
Southeast Asian ovalocytosis1 test
Spastic ataxia 11 test
Spastic paraplegia 80, autosomal dominant1 test
Spastic tetraplegia and axial hypotonia, progressive1 test
Spermatogenic failure 81 test
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1 test
Spinocerebellar ataxia 431 test
Spinocerebellar ataxia 481 test
Spinocerebellar ataxia type 111 test
Spinocerebellar ataxia type 19/221 test
Spinocerebellar ataxia type 211 test
Spinocerebellar ataxia type 341 test
Spinocerebellar ataxia type 351 test
Spinocerebellar ataxia type 51 test
Spinocerebellar ataxia, autosomal recessive 241 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
Split hand-foot malformation 61 test
Sponastrime dysplasia1 test
Spondylocostal dysostosis 3, autosomal recessive1 test
Spondylocostal dysostosis 51 test
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1 test
Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
Spondyloepiphyseal dysplasia tarda, X-linked1 test
Spondylometaphyseal dysplasia - Sutcliffe type1 test
Spondylometaphyseal dysplasia, Kozlowski type1 test
SRD5A3-congenital disorder of glycosylation1 test
Stargardt disease 31 test
Steatocystoma multiplex1 test
Stiff skin syndrome2 tests
STING-associated vasculopathy with onset in infancy1 test
Striatonigral degeneration, childhood-onset1 test
Structural brain anomalies with impaired intellectual development and craniosynostosis1 test
Sturge-Weber syndrome1 test
Stüve-Wiedemann syndrome 11 test
SUDDEN INFANT DEATH SYNDROME2 tests
Supravalvar aortic stenosis1 test
Susceptibility to mononeuropathy of the median nerve, mild1 test
Sweeney-Cox syndrome1 test
Syndactyly type 31 test
Syndactyly type 41 test
Syndromic X-linked intellectual disability Nascimento type1 test
Tangier disease1 test
TCF12-related craniosynostosis1 test
Telangiectasia, hereditary hemorrhagic, type 12 tests
Telangiectasia, hereditary hemorrhagic, type 22 tests
Telangiectasia, hereditary hemorrhagic, type 51 test
Terminal osseous dysplasia-pigmentary defects syndrome2 tests
Tetraamelia syndrome 11 test
Tetralogy of Fallot4 tests
Thanatophoric dysplasia type 11 test
Thanatophoric dysplasia, type 21 test
Thyroid cancer, nonmedullary, 23 tests
Thyrotoxic periodic paralysis, susceptibility to, 11 test
Tibia, hypoplasia or aplasia of, with polydactyly1 test
Tibial muscular dystrophy1 test
Timothy syndrome1 test
TMEM165-congenital disorder of glycosylation1 test
Tobacco addiction, susceptibility to1 test
Tooth agenesis, selective, 41 test
Tooth agenesis, selective, 81 test
Tooth agenesis, selective, X-linked, 11 test
Toriello-Lacassie-Droste syndrome1 test
Torsion dystonia 61 test
Transient bullous dermolysis of the newborn2 tests
Transient infantile hypertriglyceridemia and hepatosteatosis1 test
Transketolase deficiency1 test
Treacher Collins syndrome 11 test
Trichoepithelioma, multiple familial, 11 test
Trichothiodystrophy 1, photosensitive1 test
Trichothiodystrophy 2, photosensitive1 test
Trichothiodystrophy 3, photosensitive1 test
Trichothiodystrophy 4, nonphotosensitive1 test
Triglyceride storage disease with ichthyosis1 test
Tropical pancreatitis1 test
Troyer syndrome1 test
Tuberous sclerosis 12 tests
Tuberous sclerosis 22 tests
Tumor predisposition syndrome 31 test
TWIST1-related craniosynostosis1 test
Type 2 diabetes mellitus4 tests
Tyrosinemia type II1 test
Ullrich congenital muscular dystrophy 1A1 test
Ulnar-mammary syndrome1 test
Usher syndrome type 2A1 test
VACTERL association, X-linked, with or without hydrocephalus1 test
Vasculitis due to ADA2 deficiency1 test
Velocardiofacial syndrome1 test
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome2 tests
Ventricular fibrillation, paroxysmal familial, type 12 tests
Ventricular septal defect 21 test
Ventricular septal defect 31 test
Vesicoureteral reflux 82 tests
Visceral myopathy 21 test
Vitamin D-dependent rickets type II with alopecia1 test
Vitelliform macular dystrophy 21 test
Vitelliform macular dystrophy 31 test
Vitiligo-associated multiple autoimmune disease susceptibility 11 test
Von Hippel-Lindau syndrome2 tests
Waardenburg syndrome type 2E1 test
Waardenburg syndrome type 4B1 test
Waardenburg syndrome type 4C1 test
Weill-Marchesani syndrome 2, dominant2 tests
Werner syndrome1 test
White sponge nevus 11 test
White sponge nevus 21 test
Wiedemann-Steiner syndrome1 test
Wilms tumor 13 tests
Wolff-Parkinson-White pattern1 test
Wolfram syndrome 11 test
Wolfram-like syndrome1 test
Wooly hair-palmoplantar keratoderma syndrome1 test
X-linked Alport syndrome2 tests
X-linked complicated corpus callosum dysgenesis1 test
X-linked cone-rod dystrophy 11 test
X-linked hydrocephalus syndrome1 test
X-linked ichthyosis with steryl-sulfatase deficiency2 tests
X-linked intellectual disability with marfanoid habitus1 test
Xeroderma pigmentosum group B1 test
Xeroderma pigmentosum, group D1 test

List of services

Custom Deletion/Duplication Testing
Prenatal testing
Custom Sequence Analysis
Carrier testing
Genetic counseling

List of certifications/licenses

Certifications

KTQ certificate, Number: 2014-0022 KH, Expiration date: 2017-04-25

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.