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Institute for Human Genetics (University Medical Center Freiburg)

General information

Institute for Human Genetics
University Medical Center 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: 230

Gene

GeneSubmissionsLast Updated
ALOX12B114Jan 18, 2021
ALOXE337Jan 18, 2021
CYP4F2243Apr 26, 2018
LOC1268624852Jan 18, 2021
LOC1299951241May 21, 2019
LOC1300601965Jan 18, 2021
LOC1300601988Jan 18, 2021
MITF1May 30, 2018
NIPAL425May 21, 2019
PORCN2Jan 17, 2018
SERPINA122Aug 2, 2023
SULT2B14May 10, 2017
SYNJ12Apr 25, 2018

Condition

NameSubmissionsLast Updated
Autosomal recessive congenital ichthyosis 11May 10, 2017
Autosomal recessive congenital ichthyosis 2117Jan 18, 2021
Autosomal recessive congenital ichthyosis 337Jan 18, 2021
Autosomal recessive congenital ichthyosis 543Apr 26, 2018
Autosomal recessive congenital ichthyosis 625May 21, 2019
Early-onset Parkinson disease 202Apr 25, 2018
Focal dermal hypoplasia2Jan 17, 2018
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type2Aug 2, 2023
Waardenburg syndrome type 21May 30, 2018

Testing in GTR

Disease nameNumber of tests
ACTH-independent macronodular adrenal hyperplasia 11 test
ALDH18A1-related de Barsy syndrome1 test
Abetalipoproteinaemia1 test
Achondroplasia1 test
Acne inversa, familial, 11 test
Acne inversa, familial, 21 test
Acne inversa, familial, 31 test
Acral peeling skin syndrome1 test
Acrocephalosyndactyly type I1 test
Acrodermatitis continua suppurativa of Hallopeau1 test
Acrodysostosis 1 with or without hormone resistance1 test
Acroerythrokeratoderma1 test
Acrokeratosis verruciformis of Hopf1 test
Acromicric dysplasia2 tests
Acute lymphoid leukemia1 test
Acute myeloid leukemia3 tests
Adams-Oliver syndrome 21 test
Adermatoglyphia1 test
Adrenocortical carcinoma, hereditary1 test
Age related macular degeneration 11 test
Al-Gazali syndrome1 test
Alzheimer disease 21 test
Alzheimer disease 32 tests
Amelogenesis imperfecta type 1A1 test
Aneurysm-osteoarthritis syndrome1 test
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
Aortic aneurysm, familial thoracic 101 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
Aplastic anemia1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1 test
Arrhythmogenic right ventricular dysplasia 11 test
Arrhythmogenic right ventricular dysplasia 111 test
Arrhythmogenic right ventricular dysplasia 121 test
Arrhythmogenic right ventricular dysplasia 81 test
Arterial calcification, generalized, of infancy, 11 test
Arterial calcification, generalized, of infancy, 21 test
Arterial tortuosity syndrome1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Ataxia-telangiectasia syndrome1 test
Atrioventricular septal defect1 test
Autoimmune lymphoproliferative syndrome type 42 tests
Autoinflammation with arthritis and dyskeratosis1 test
Autosomal dominant hypocalcemia 21 test
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
Autosomal dominant lamellar ichthyosis1 test
Autosomal dominant nonsyndromic hearing loss 2B1 test
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant nonsyndromic hearing loss 3B1 test
Autosomal dominant palmoplantar keratoderma and congenital alopecia1 test
Autosomal recessive complex spastic paraplegia type 9B1 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 cutis laxa type 2B1 test
Autosomal recessive cutis laxa type 2D1 test
Autosomal recessive inherited pseudoxanthoma elasticum1 test
Autosomal recessive keratitis-ichthyosis-deafness syndrome1 test
Autosomal recessive limb-girdle muscular dystrophy type 2Q1 test
Autosomal recessive limb-girdle muscular dystrophy type 2R11 test
Autosomal recessive nonsyndromic hearing loss 1A3 tests
Autosomal recessive nonsyndromic hearing loss 1B1 test
Autosomal recessive nonsyndromic hearing loss 971 test
BAP1-related tumor predisposition syndrome1 test
Baller-Gerold syndrome1 test
Basal cell carcinoma, susceptibility to, 13 tests
Basal cell carcinoma, susceptibility to, 71 test
Basal cell nevus syndrome 11 test
Basan syndrome1 test
Beare-Stevenson cutis gyrata syndrome1 test
Beckwith-Wiedemann syndrome1 test
Bent bone dysplasia syndrome 11 test
Bethlem myopathy 21 test
Birt-Hogg-Dube syndrome1 test
Blepharocheilodontic syndrome 11 test
Bone marrow failure syndrome 51 test
Bone osteosarcoma4 tests
Breast-ovarian cancer, familial, susceptibility to, 12 tests
Breast-ovarian cancer, familial, susceptibility to, 22 tests
Breast-ovarian cancer, familial, susceptibility to, 31 test
Breast-ovarian cancer, familial, susceptibility to, 41 test
Brittle cornea syndrome 11 test
Brittle cornea syndrome 21 test
Bronchiectasis with or without elevated sweat chloride 13 tests
Brooke-Spiegler syndrome1 test
CEDNIK syndrome1 test
CHEK2-related cancer predisposition1 test
CK syndrome1 test
CLAPO syndrome1 test
CLOVES syndrome1 test
Café-au-lait macules with pulmonary stenosis2 tests
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Capillary infantile hemangioma1 test
Capillary malformation-arteriovenous malformation 11 test
Capillary malformation-arteriovenous malformation 21 test
Carcinoma of pancreas4 tests
Cardiofaciocutaneous syndrome 21 test
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis1 test
Carney complex, type 11 test
Carney-Stratakis syndrome3 tests
Cerebral arteriovenous malformation1 test
Cerebral cavernous malformation1 test
Cerebral cavernous malformation 21 test
Cerebral cavernous malformation 31 test
Cerebrooculofacioskeletal syndrome 21 test
Cervical cancer1 test
Charcot-Marie-Tooth disease type 2B11 test
Charcot-Marie-Tooth disease, demyelinating, IIA 1H1 test
Child syndrome1 test
Cholestanol storage disease1 test
Cholesteryl ester storage disease1 test
Chondrodysplasia punctata 2 X-linked dominant1 test
Choroid plexus papilloma1 test
Chronic myeloid leukemia1 test
Chuvash polycythemia2 tests
Chylomicron retention disease1 test
Classic homocystinuria1 test
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness1 test
Colorectal cancer9 tests
Colorectal cancer, hereditary nonpolyposis, type 22 tests
Colorectal cancer, hereditary nonpolyposis, type 61 test
Colorectal cancer, susceptibility to, 101 test
Colorectal cancer, susceptibility to, 121 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
Complement component C1s deficiency1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation3 tests
Congenital contractural arachnodactyly1 test
Congenital diarrhea 5 with tufting enteropathy2 tests
Congenital heart defects and skeletal malformations syndrome1 test
Congenital heart defects, multiple types, 71 test
Congenital heart defects, multiple types, 8, with or without heterotaxy1 test
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1 test
Congenital macrodactylia1 test
Congenital muscular dystrophy due to LMNA mutation1 test
Congenital reticular ichthyosiform erythroderma1 test
Corneal dystrophy, Fuchs endothelial, 31 test
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome1 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-acanthosis nigricans syndrome1 test
Cutaneous mastocytosis1 test
Cutis laxa with osteodystrophy1 test
Cutis laxa, X-linked1 test
Cutis laxa, autosomal dominant 11 test
Cutis laxa, autosomal dominant 21 test
Cutis laxa, autosomal dominant 31 test
Cutis laxa, autosomal recessive, type 1A1 test
Cutis laxa, autosomal recessive, type 1B1 test
Cutis laxa, autosomal recessive, type 2E1 test
Cystic fibrosis3 tests
Deficiency of adenosine deaminase 21 test
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1 test
Dermatitis, atopic, 21 test
Dermatopathia pigmentosa reticularis1 test
Desmoid disease, hereditary2 tests
Developmental and epileptic encephalopathy 931 test
Diffuse nonepidermolytic palmoplantar keratoderma1 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1GG1 test
Dilated cardiomyopathy 1U1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
Dominant dystrophic epidermolysis bullosa with absence of skin1 test
Dowling-Degos disease 11 test
Dowling-Degos disease 21 test
Dowling-Degos disease 41 test
Drash syndrome1 test
Dyskeratosis congenita, autosomal dominant 21 test
Ectopia lentis 1, isolated, autosomal dominant2 tests
Ehlers-Danlos syndrome due to tenascin-X deficiency1 test
Ehlers-Danlos syndrome, arthrochalasia type1 test
Ehlers-Danlos syndrome, arthrochalasia type, 21 test
Ehlers-Danlos syndrome, cardiac valvular type1 test
Ehlers-Danlos syndrome, classic type, 11 test
Ehlers-Danlos syndrome, classic type, 21 test
Ehlers-Danlos syndrome, classic-like, 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, musculocontractural type 21 test
Ehlers-Danlos syndrome, periodontal type 11 test
Ehlers-Danlos syndrome, periodontal type 21 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
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
Endometrial carcinoma4 tests
Epidermal nevus4 tests
Epidermolysis bullosa pruriginosa1 test
Epidermolysis bullosa simplex 1A, generalized severe1 test
Epidermolysis bullosa simplex 1C, localized1 test
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive1 test
Epidermolysis bullosa simplex 2A, generalized severe1 test
Epidermolysis bullosa simplex 2B, generalized intermediate1 test
Epidermolysis bullosa simplex 2C, localized1 test
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive1 test
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1 test
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1 test
Epidermolysis bullosa simplex 5B, with muscular dystrophy1 test
Epidermolysis bullosa simplex 5C, with pyloric 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 erythema1 test
Epidermolysis bullosa simplex with mottled pigmentation1 test
Epidermolysis bullosa simplex with nail dystrophy1 test
Epidermolysis bullosa simplex, Koebner type1 test
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
Epithelial recurrent erosion dystrophy1 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
Erythrokeratodermia variabilis et progressiva 61 test
Erythrokeratodermia variabilis et progressiva 71 test
Euthyroid goiter1 test
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 51 test
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome1 test
Familial adenomatous polyposis 12 tests
Familial adenomatous polyposis 21 test
Familial adenomatous polyposis 31 test
Familial adenomatous polyposis 41 test
Familial apolipoprotein C-II deficiency1 test
Familial atrial myxoma1 test
Familial benign pemphigus1 test
Familial cancer of breast12 tests
Familial cylindromatosis1 test
Familial hypobetalipoproteinemia 11 test
Familial hypocalciuric hypercalcemia 21 test
Familial medullary thyroid carcinoma1 test
Familial meningioma3 tests
Familial multiple nevi flammei1 test
Familial partial lipodystrophy, Dunnigan type1 test
Familial scaphocephaly syndrome, McGillivray type1 test
Familial spontaneous pneumothorax1 test
Familial type 3 hyperlipoproteinemia1 test
Familial type 5 hyperlipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type1 test
Fanconi anemia complementation group D12 tests
Fanconi anemia complementation group J1 test
Fanconi anemia complementation group N1 test
Fanconi anemia complementation group O1 test
Fanconi anemia, complementation group S2 tests
Fibromuscular dysplasia, multifocal1 test
Fish-eye disease1 test
Focal dermal hypoplasia1 test
Frasier syndrome1 test
Frontotemporal dementia1 test
Frontotemporal dementia and/or amyotrophic lateral sclerosis 81 test
Fumarase deficiency1 test
Gallbladder disease 41 test
Gastric adenocarcinoma and proximal polyposis of the stomach2 tests
Gastric cancer6 tests
Gastrointestinal stromal tumor3 tests
Geleophysic dysplasia 22 tests
Generalized dominant dystrophic epidermolysis bullosa1 test
Germ cell tumor of testis3 tests
Glaucoma 3, primary congenital, E1 test
Glioma susceptibility 11 test
Glioma susceptibility 21 test
Glioma susceptibility 32 tests
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1 test
Glomuvenous malformation1 test
Gorlin syndrome2 tests
Haim-Munk syndrome1 test
Heart-hand syndrome, Slovenian type1 test
Hepatocellular carcinoma5 tests
Hereditary diffuse gastric adenocarcinoma1 test
Hereditary disease13 tests
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary lymphedema type I1 test
Hereditary mucoepithelial dysplasia1 test
Hereditary pancreatitis4 tests
Hereditary sensory and autonomic neuropathy type 61 test
Hereditary spastic paraplegia 441 test
Hereditary spastic paraplegia 9A1 test
Hidrotic ectodermal dysplasia syndrome1 test
High density lipoprotein cholesterol level quantitative trait locus 121 test
Hirschsprung disease, susceptibility to, 11 test
Holoprosencephaly 71 test
Huntington disease1 test
Hutchinson-Gilford syndrome1 test
Hypercholesterolemia, autosomal dominant, 31 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hypercholesterolemia, familial, 12 tests
Hypercholesterolemia, familial, 41 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperlipidemia due to hepatic triglyceride lipase deficiency1 test
Hyperlipidemia, familial combined, LPL related1 test
Hyperlipoproteinemia, type 1D1 test
Hyperlipoproteinemia, type I1 test
Hypertriglyceridemia 11 test
Hypertriglyceridemia 21 test
Hypertrophic osteoarthropathy, primary, autosomal recessive, 11 test
Hypoalphalipoproteinemia, primary, 11 test
Hypoalphalipoproteinemia, primary, 21 test
Hypoalphalipoproteinemia, primary, 2, intermediate1 test
Hypochondroplasia1 test
Hypomyelinating leukodystrophy 21 test
Hypophosphatemic rickets, autosomal recessive, 21 test
Hypopigmentation-punctate palmoplantar keratoderma syndrome1 test
Hypoplastic left heart syndrome 11 test
Hypotrichosis 21 test
Hypotrichosis-lymphedema-telangiectasia syndrome1 test
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome1 test
IFAP syndrome 1, with or without BRESHECK syndrome1 test
IFAP syndrome 21 test
IMAGe 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 loss1 test
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features1 test
Idiopathic hypereosinophilic syndrome1 test
Increased analgesia from kappa-opioid receptor agonist, female-specific1 test
Infantile cortical hyperostosis1 test
Inherited obesity1 test
Intellectual disability, autosomal dominant 151 test
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1 test
Isolated congenital digital clubbing1 test
Isolated focal cortical dysplasia type II4 tests
Isolated focal non-epidermolytic palmoplantar keratoderma1 test
Jackson-Weiss syndrome1 test
Joubert syndrome 321 test
Junctional epidermolysis bullosa gravis of Herlitz1 test
Junctional epidermolysis bullosa with pyloric atresia1 test
Junctional epidermolysis bullosa, non-Herlitz type1 test
Juvenile myelomonocytic leukemia2 tests
Juvenile polyposis syndrome2 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1 test
Keratoderma with scleroatrophy of the extremities1 test
Keratolytic winter erythema1 test
Keratosis follicularis1 test
Keratosis follicularis spinulosa decalvans, X-linked1 test
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1 test
Keratosis palmoplantaris striata 21 test
Keratosis palmoplantaris striata 31 test
Keratosis pilaris atrophicans1 test
Kindler syndrome1 test
Knuckle pads, deafness AND leukonychia syndrome1 test
Kury-Isidor syndrome1 test
LADD syndrome 12 tests
LZTR1-related schwannomatosis1 test
Large congenital melanocytic nevus2 tests
Laryngo-onycho-cutaneous syndrome1 test
Lethal acantholytic epidermolysis bullosa1 test
Lethal tight skin contracture syndrome1 test
Li-Fraumeni syndrome 11 test
Linear nevus sebaceous syndrome3 tests
Lipase deficiency, combined1 test
Lipoprotein glomerulopathy1 test
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 41 test
Loeys-Dietz syndrome 61 test
Lopes-Maciel-Rodan syndrome1 test
Loricrin keratoderma1 test
Lung cancer2 tests
Lymphangiomyomatosis4 tests
Lymphatic malformation 101 test
Lymphatic malformation 111 test
Lymphatic malformation 31 test
Lymphatic malformation 41 test
Lymphatic malformation 61 test
Lymphatic malformation 71 test
Lymphatic malformation 91 test
Lynch syndrome 12 tests
Lynch syndrome 42 tests
Lynch syndrome 52 tests
Lynch syndrome 82 tests
MASS syndrome2 tests
MEDNIK syndrome1 test
MEND syndrome1 test
Macrocephaly-autism syndrome1 test
Macular degeneration, age-related, 31 test
Macular degeneration, early-onset1 test
Malignant tumor of esophagus1 test
Malignant tumor of urinary bladder5 tests
Mandibular hypoplasia-deafness-progeroid syndrome1 test
Mandibuloacral dysplasia with type A lipodystrophy1 test
Mandibuloacral dysplasia with type B lipodystrophy1 test
Marfan syndrome2 tests
McCune-Albright syndrome1 test
Meacham syndrome1 test
Medulloblastoma4 tests
Meester-Loeys syndrome1 test
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, 11 test
Melanoma, cutaneous malignant, susceptibility to, 21 test
Melanoma, cutaneous malignant, susceptibility to, 31 test
Melanoma, cutaneous malignant, susceptibility to, 51 test
Melanoma, cutaneous malignant, susceptibility to, 81 test
Melanoma, cutaneous malignant, susceptibility to, 91 test
Melanoma-pancreatic cancer syndrome1 test
Menkes kinky-hair syndrome1 test
Mesothelioma, malignant1 test
Metabolic syndrome X1 test
Mevalonic aciduria1 test
Microcephaly, normal intelligence and immunodeficiency1 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 11 test
Monilethrix3 tests
Moyamoya disease 51 test
Muenke syndrome1 test
Muir-Torré syndrome4 tests
Multiple cutaneous and mucosal venous malformations1 test
Multiple endocrine neoplasia type 2A1 test
Multiple endocrine neoplasia type 2B1 test
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 11 test
Multiple self-healing squamous epithelioma1 test
Multiple sulfatase deficiency1 test
Multisystemic smooth muscle dysfunction syndrome1 test
Mutilating keratoderma1 test
Myhre syndrome1 test
Naegeli-Franceschetti-Jadassohn syndrome1 test
Nasopharyngeal carcinoma1 test
Naxos disease1 test
Neonatal ichthyosis-sclerosing cholangitis syndrome1 test
Nephrotic syndrome 161 test
Nephrotic syndrome, type 41 test
Netherton syndrome1 test
Neurocutaneous melanocytosis1 test
Neurodegeneration with ataxia and late-onset optic atrophy1 test
Neurofibromatosis, familial spinal2 tests
Neurofibromatosis, type 12 tests
Neurofibromatosis, type 21 test
Neurofibromatosis-Noonan syndrome2 tests
Neuropathy, hereditary sensory and autonomic, type 1A1 test
Niemann-Pick disease, type C11 test
Nonpapillary renal cell carcinoma3 tests
Nonsyndromic congenital nail disorder 81 test
Noonan syndrome 101 test
Noonan syndrome 21 test
Noonan syndrome 31 test
Noonan syndrome 61 test
Norum disease1 test
Oculodentodigital dysplasia1 test
Oculodentodigital dysplasia, autosomal recessive1 test
Odonto-onycho-dermal dysplasia1 test
Olmsted syndrome 11 test
Olmsted syndrome 21 test
Olmsted syndrome, X-linked1 test
Osteofibrous dysplasia1 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III2 tests
Osteogenesis imperfecta with normal sclerae, dominant form2 tests
Osteogenesis imperfecta, perinatal lethal2 tests
Osteogenesis imperfecta, type 191 test
Osteoporosis2 tests
Ovarian neoplasm3 tests
PYCR1-related de Barsy syndrome1 test
Pachyonychia congenita 11 test
Pachyonychia congenita 21 test
Pachyonychia congenita 31 test
Pachyonychia congenita 41 test
Palmoplantar keratoderma i, striate, focal, or diffuse1 test
Palmoplantar keratoderma, Bothnian type1 test
Palmoplantar keratoderma, Nagashima type1 test
Palmoplantar keratoderma, epidermolytic2 tests
Palmoplantar keratoderma, nonepidermolytic, focal 11 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, susceptibility to, 22 tests
Pancreatic cancer, susceptibility to, 31 test
Pancreatic cancer, susceptibility to, 42 tests
Papillary renal cell carcinoma type 11 test
Papillon-Lefèvre syndrome1 test
Patterned macular dystrophy 21 test
Peeling skin syndrome 11 test
Peeling skin syndrome 41 test
Peeling skin syndrome 51 test
Peeling skin syndrome 61 test
Peeling skin syndrome type A1 test
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome1 test
Periodontitis, aggressive1 test
Peutz-Jeghers syndrome1 test
Pfeiffer syndrome1 test
Pheochromocytoma7 tests
Pheochromocytoma/paraganglioma syndrome 11 test
Pheochromocytoma/paraganglioma syndrome 21 test
Pheochromocytoma/paraganglioma syndrome 31 test
Pheochromocytoma/paraganglioma syndrome 41 test
Pheochromocytoma/paraganglioma syndrome 51 test
Pheochromocytoma/paraganglioma syndrome 71 test
Phytanic acid storage disease1 test
Pick disease1 test
Piebaldism1 test
Pigmented nodular adrenocortical disease, primary, 11 test
Pitt-Hopkins syndrome1 test
Pituitary adenoma 3, multiple types1 test
Pityriasis rubra pilaris1 test
Pleuropulmonary blastoma1 test
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome2 tests
Polyposis syndrome, hereditary mixed, 21 test
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal1 test
Porokeratosis 1, Mibelli type1 test
Porokeratosis 3, disseminated superficial actinic type1 test
Porokeratosis 7, multiple types1 test
Porokeratosis 9, multiple types1 test
Pretibial dystrophic epidermolysis bullosa1 test
Progeroid and marfanoid aspect-lipodystrophy syndrome2 tests
Progressive familial heart block type IB1 test
Progressive osseous heteroplasia1 test
Prostate cancer5 tests
Prostate cancer, hereditary, 91 test
Proteasome-associated autoinflammatory syndrome 21 test
Proteus syndrome1 test
Pseudohypoparathyroidism type 1B1 test
Pseudohypoparathyroidism type 1C1 test
Pseudohypoparathyroidism type I A1 test
Pseudopseudohypoparathyroidism1 test
Pseudoxanthoma elasticum, forme fruste1 test
Psoriasis 21 test
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 11 test
Pulmonary hypertension, primary, 11 test
Pulmonary venoocclusive disease 11 test
RAPH BLOOD GROUP SYSTEM1 test
RIN2 syndrome1 test
Rapadilino syndrome1 test
Recessive dystrophic epidermolysis bullosa1 test
Respiratory papillomatosis, juvenile recurrent, congenital1 test
Restrictive dermopathy 21 test
Retinoblastoma2 tests
Rhabdoid tumor predisposition syndrome 11 test
Rhabdomyosarcoma, embryonal, 21 test
Rienhoff syndrome1 test
Rothmund-Thomson syndrome type 21 test
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 21 test
SMARCB1-related schwannomatosis2 tests
Saethre-Chotzen syndrome1 test
Schöpf-Schulz-Passarge syndrome1 test
Sea-blue histiocyte syndrome1 test
Seborrheic keratosis1 test
Sessile serrated polyposis cancer syndrome1 test
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
Severe dermatitis-multiple allergies-metabolic wasting syndrome1 test
Sitosterolemia 11 test
Sitosterolemia 21 test
Sjögren-Larsson syndrome1 test
Small cell lung carcinoma2 tests
Sneddon syndrome1 test
Spinocerebellar ataxia type 341 test
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures1 test
Stargardt disease 31 test
Steatocystoma multiplex1 test
Stiff skin syndrome2 tests
Sturge-Weber syndrome1 test
Supravalvar aortic stenosis1 test
Syndactyly type 31 test
Tangier disease1 test
Telangiectasia, hereditary hemorrhagic, type 11 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Telangiectasia, hereditary hemorrhagic, type 51 test
Thanatophoric dysplasia type 11 test
Thanatophoric dysplasia, type 21 test
Thyroid cancer, nonmedullary, 22 tests
Tietz syndrome1 test
Tooth agenesis, selective, 41 test
Toriello-Lacassie-Droste syndrome1 test
Transient bullous dermolysis of the newborn1 test
Transient infantile hypertriglyceridemia and hepatosteatosis1 test
Trichoepithelioma, multiple familial, 11 test
Trichothiodystrophy 1, photosensitive1 test
Trichothiodystrophy 2, photosensitive1 test
Trichothiodystrophy 3, photosensitive1 test
Trichothiodystrophy 4, nonphotosensitive1 test
Trichothiodystrophy 6, nonphotosensitive1 test
Triglyceride storage disease with ichthyosis1 test
Tuberous sclerosis 12 tests
Tuberous sclerosis 22 tests
Tumor predisposition syndrome 31 test
Type 2 diabetes mellitus2 tests
Tyrosinase-positive oculocutaneous albinism1 test
Tyrosinemia type II1 test
Ullrich congenital muscular dystrophy 21 test
VISS syndrome1 test
Vesicoureteral reflux 81 test
Visceral myopathy 21 test
Vitiligo-associated multiple autoimmune disease susceptibility 11 test
Von Hippel-Lindau syndrome2 tests
Waardenburg syndrome type 2A1 test
Weill-Marchesani syndrome 2, dominant2 tests
White sponge nevus 11 test
White sponge nevus 21 test
Wilms tumor 13 tests
Wooly hair-palmoplantar keratoderma syndrome1 test
Wrinkly skin syndrome1 test
X-linked distal spinal muscular atrophy type 31 test
X-linked ichthyosis with steryl-sulfatase deficiency2 tests
X-linked spondyloepimetaphyseal dysplasia1 test
Xeroderma pigmentosum group B1 test
Xeroderma pigmentosum, group D1 test