U.S. flag

An official website of the United States government

GTR Home > Laboratories > Institute of Human Genetics

Institute of Human Genetics

  • Institute of Human Genetics, ZMGI
  • Medical University Innsbruck
  • Department: Genetics and Pharmacology
  • Peter-Mayr-Str. 1
  • Innsbruck, Tirol, Austria 6020
  • Phone: +43 (0)512-9003-70531
    Fax: +43 (0)512-9003-73510
    Email: humgendiag@i-med.ac.at
  • Website: http://www.humgen.at/

GTR Lab ID: 320418, Last updated:2023-11-07

Personnel

Conditions and tests

  • 3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
  • 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
  • 3-methylglutaconic aciduria type 11 test
  • 3MC syndrome 11 test
  • 3MC syndrome 21 test
  • 3MC syndrome 31 test
  • Abetalipoproteinaemia1 test
  • Achondroplasia1 test
  • Acrocephalosyndactyly type I1 test
  • Acroerythrokeratoderma1 test
  • Acute intermittent porphyria1 test
  • Adrenoleukodystrophy1 test
  • Adult-onset foveomacular vitelliform dystrophy1 test
  • Alagille syndrome due to a JAG1 point mutation1 test
  • Alpha-1-antitrypsin deficiency1 test
  • Alport syndrome3 tests
  • Alzheimer disease1 test
  • Amelocerebrohypohidrotic syndrome1 test
  • Amyotrophic lateral sclerosis2 tests
  • Amyotrophic lateral sclerosis type 11 test
  • Amyotrophic lateral sclerosis type 61 test
  • Angelman syndrome2 tests
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
  • Aspartylglucosaminuria1 test
  • Ateleiotic dwarfism1 test
  • Autism, susceptibility to, X-linked 31 test
  • Autosomal dominant Alport syndrome1 test
  • Autosomal dominant keratitis-ichthyosis-hearing loss syndrome1 test
  • Autosomal dominant nonsyndromic hearing loss 2B1 test
  • Autosomal dominant nonsyndromic hearing loss 3A1 test
  • Autosomal dominant nonsyndromic hearing loss 91 test
  • Autosomal recessive Alport syndrome1 test
  • Autosomal recessive axonal neuropathy with neuromyotonia1 test
  • Autosomal recessive bestrophinopathy1 test
  • Autosomal recessive nonsyndromic hearing loss 1A2 tests
  • Bardet-Biedl syndrome1 test
  • Benign familial hematuria2 tests
  • beta Thalassemia1 test
  • Biotinidase deficiency1 test
  • Bone osteosarcoma1 test
  • Breast-ovarian cancer, familial, susceptibility to, 11 test
  • Breast-ovarian cancer, familial, susceptibility to, 21 test
  • Carcinoid tumor of intestine1 test
  • Carcinoma of pancreas1 test
  • Carney-Stratakis syndrome3 tests
  • Carnitine palmitoyl transferase II deficiency, neonatal form1 test
  • Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
  • Carpal tunnel syndrome1 test
  • Charcot-Marie-Tooth disease axonal type 2F1 test
  • Charcot-Marie-Tooth disease axonal type 2K1 test
  • Charcot-Marie-Tooth disease dominant intermediate D1 test
  • Charcot-Marie-Tooth disease type 1B1 test
  • Charcot-Marie-Tooth disease type 1D1 test
  • Charcot-Marie-Tooth disease type 1F1 test
  • Charcot-Marie-Tooth disease type 2A21 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 4A1 test
  • Charcot-Marie-Tooth disease type 4C1 test
  • Charcot-Marie-Tooth disease type 4E1 test
  • CHARGE syndrome1 test
  • Childhood hypophosphatasia1 test
  • Childhood onset GLUT1 deficiency syndrome 21 test
  • Cholestasis, intrahepatic, of pregnancy, 31 test
  • Choroidal dystrophy, central areolar 21 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Citrullinemia type I1 test
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
  • Classic homocystinuria1 test
  • COACH syndrome 11 test
  • Collagen IV-related nephropathies3 tests
  • Colorectal cancer, hereditary nonpolyposis, type 21 test
  • Cone dystrophy with supernormal rod response1 test
  • Cone-rod dystrophy 61 test
  • Congenital adrenal hyperplasia1 test
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
  • Congenital disorder of glycosylation1 test
  • Congenital glucose-galactose malabsorption1 test
  • Congenital hyperammonemia, type I1 test
  • Congenital microvillous atrophy1 test
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital secretory sodium diarrhea 31 test
  • Congenital stationary night blindness autosomal dominant 11 test
  • Cowden syndrome1 test
  • Cowden syndrome 31 test
  • Cowden-Like Syndrome1 test
  • Crouzon syndrome1 test
  • Cystic fibrosis1 test
  • D-2-hydroxyglutaric aciduria 11 test
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of hydroxymethylglutaryl-CoA lyase1 test
  • Deficiency of steroid 11-beta-monooxygenase2 tests
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Dejerine-Sottas disease1 test
  • Developmental and epileptic encephalopathy, 11 test
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy 1A1 test
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
  • Dominant beta-thalassemia1 test
  • Dystonia 91 test
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
  • Encephalopathy due to GLUT1 deficiency1 test
  • Endometrial carcinoma3 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 121 test
  • Erythrokeratodermia variabilis et progressiva 12 tests
  • Fabry disease1 test
  • Familial adenomatous polyposis 11 test
  • Familial adenomatous polyposis 21 test
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial amyloid neuropathy1 test
  • Familial cold autoinflammatory syndrome 11 test
  • Familial hypercholesterolemia2 tests
  • Familial hypobetalipoproteinemia 11 test
  • Familial Mediterranean fever1 test
  • Familial Mediterranean fever, autosomal dominant1 test
  • Familial meningioma1 test
  • Familial partial lipodystrophy, Dunnigan type1 test
  • Familial porphyria cutanea tarda1 test
  • Familial renal glucosuria1 test
  • Fetal hemoglobin quantitative trait locus 11 test
  • Follicular thyroid carcinoma1 test
  • Friedreich ataxia 11 test
  • Fructose and galactose intolerance2 tests
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Gastrointestinal stromal tumor2 tests
  • Generalized epilepsy with febrile seizures plus, type 21 test
  • Glucose-6-phosphate transport defect1 test
  • Glutaric aciduria, type 11 test
  • Glutaryl-CoA oxidase deficiency1 test
  • Glutathione synthetase deficiency without 5-oxoprolinuria1 test
  • Glycogen storage disease1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
  • Glycogen storage disease IIIa1 test
  • Glycogen storage disease IIIb1 test
  • Glycogen storage disease IXa11 test
  • Glycogen storage disease IXb1 test
  • Glycogen storage disease IXc1 test
  • Glycogen storage disease, type II1 test
  • Glycogen storage disease, type IV1 test
  • Glycogen storage disease, type V1 test
  • Glycogen storage disease, type VI1 test
  • GM1 gangliosidosis type 21 test
  • GM1 gangliosidosis type 31 test
  • Hb SS disease1 test
  • Heart-hand syndrome, Slovenian type1 test
  • Heinz body anemia1 test
  • Hemochromatosis type 11 test
  • Hepatic methionine adenosyltransferase deficiency1 test
  • Hereditary antithrombin deficiency1 test
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary fructosuria1 test
  • Hereditary motor and sensory neuropathy with optic atrophy1 test
  • Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
  • HSD10 mitochondrial disease1 test
  • Hutchinson-Gilford syndrome1 test
  • Hypercholesterolemia, autosomal dominant, 31 test
  • Hypercholesterolemia, familial, 11 test
  • Hyperimmunoglobulin D with periodic fever1 test
  • Hyperlipidemia, familial combined, LPL related1 test
  • Hyperlipoproteinemia, type I1 test
  • Hyperlysinemia1 test
  • Hyperparathyroidism 2 with jaw tumors1 test
  • Hyperprolinemia type 21 test
  • Hyperthyroxinemia, dystransthyretinemic1 test
  • Hypobetalipoproteinemia1 test
  • Ichthyosis, hystrix-like, with hearing loss1 test
  • Infantile GM1 gangliosidosis1 test
  • Inherited blood coagulation disorder2 tests
  • Inherited glutathione synthetase deficiency1 test
  • Intellectual disability, autosomal dominant 151 test
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Joubert syndrome 141 test
  • Joubert syndrome 61 test
  • Juvenile retinoschisis1 test
  • Knuckle pads, deafness AND leukonychia syndrome1 test
  • Langer mesomelic dysplasia syndrome1 test
  • Leber congenital amaurosis 11 test
  • Leber congenital amaurosis 131 test
  • Leber congenital amaurosis 81 test
  • Legius syndrome1 test
  • Leri-Weill dyschondrosteosis1 test
  • Loricrin keratoderma1 test
  • Lynch syndrome 11 test
  • Lynch syndrome 41 test
  • Lynch syndrome 51 test
  • Macrocephaly-autism syndrome1 test
  • Macular degeneration, X-linked atrophic1 test
  • Malaria, susceptibility to1 test
  • Malignant tumor of testis1 test
  • Malignant tumor of urinary bladder1 test
  • Maple syrup urine disease2 tests
  • Meckel syndrome, type 31 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Melanoma, cutaneous malignant, susceptibility to, 11 test
  • Metachromatic leukodystrophy1 test
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
  • Mevalonic aciduria1 test
  • Microvascular complications of diabetes, susceptibility to, 71 test
  • Migraine, familial hemiplegic, 31 test
  • Mismatch repair cancer syndrome 14 tests
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-IV-B1 test
  • Muenke syndrome1 test
  • Muir-Torré syndrome2 tests
  • Multiple endocrine neoplasia, type 11 test
  • Multiple sclerosis, susceptibility to, 51 test
  • Mutilating keratoderma1 test
  • MYH9-related disorder1 test
  • Myoglobinuria, acute recurrent, autosomal recessive1 test
  • Neoplasm of stomach1 test
  • Nephronophthisis 111 test
  • Nephrotic syndrome, type 21 test
  • Neurofibromatosis, type 11 test
  • Neurofibromatosis, type 21 test
  • Neuronopathy, distal hereditary motor, type 2B1 test
  • Niemann-Pick disease, type A1 test
  • Niemann-Pick disease, type B1 test
  • Niemann-Pick disease, type C11 test
  • Niemann-Pick disease, type C21 test
  • Non-ketotic hyperglycinemia2 tests
  • Nonpapillary renal cell carcinoma1 test
  • Ornithine carbamoyltransferase deficiency1 test
  • Palmoplantar keratoderma-deafness syndrome1 test
  • Pancreatic cancer, susceptibility to, 21 test
  • Paragangliomas 31 test
  • Paragangliomas 41 test
  • Paragangliomas with sensorineural hearing loss1 test
  • Patterned macular dystrophy 11 test
  • Peutz-Jeghers syndrome1 test
  • PGM1-congenital disorder of glycosylation1 test
  • Phenylketonuria1 test
  • Pheochromocytoma3 tests
  • Phosphate transport defect1 test
  • Pigmentary retinal dystrophy2 tests
  • Pilomatrixoma1 test
  • Polyglandular autoimmune syndrome, type 11 test
  • Porokeratosis 3, disseminated superficial actinic type1 test
  • Progressive myoclonic epilepsy type 31 test
  • Propionic acidemia2 tests
  • Protoporphyria, erythropoietic, 11 test
  • Pyridoxine-dependent epilepsy1 test
  • RECLASSIFIED - MTTP POLYMORPHISM1 test
  • Retinitis pigmentosa 11 test
  • Retinitis pigmentosa 111 test
  • Retinitis pigmentosa 121 test
  • Retinitis pigmentosa 21 test
  • Retinitis pigmentosa 31 test
  • Retinitis pigmentosa 41 test
  • Retinitis pigmentosa 451 test
  • Retinitis pigmentosa 501 test
  • Retinitis pigmentosa 71 test
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
  • Retinoblastoma1 test
  • Rett syndrome1 test
  • Rhabdoid tumor predisposition syndrome 11 test
  • Robinow-Sorauf syndrome1 test
  • Roussy-Lévy syndrome1 test
  • Saethre-Chotzen syndrome1 test
  • Schwannomatosis2 tests
  • Severe myoclonic epilepsy in infancy1 test
  • Severe neonatal-onset encephalopathy with microcephaly1 test
  • SHOX-related short stature1 test
  • Smith-Lemli-Opitz syndrome1 test
  • Spongy degeneration of central nervous system1 test
  • Squamous cell carcinoma of the head and neck1 test
  • Supravalvar aortic stenosis1 test
  • Susceptibility to mononeuropathy of the median nerve, mild1 test
  • Syndromic X-linked intellectual disability Lubs type1 test
  • Tetralogy of Fallot1 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Transferrin serum level quantitative trait locus 21 test
  • Trimethylaminuria1 test
  • TWIST1-related craniosynostosis1 test
  • Tyrosinemia type I1 test
  • UDPglucose-4-epimerase deficiency1 test
  • Variegate porphyria2 tests
  • Vitelliform macular dystrophy1 test
  • Von Hippel-Lindau syndrome1 test
  • Wilson disease1 test
  • X-linked Alport syndrome1 test
  • X-linked cone-rod dystrophy 11 test
  • X-linked ichthyosis with steryl-sulfatase deficiency1 test
  • X-linked intellectual disability-psychosis-macroorchidism syndrome1 test
  • X-linked lissencephaly with abnormal genitalia1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Custom microarray analysis
  • Carrier testing
  • DNA Banking
  • Genetic counseling
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Result interpretation
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing
  • Whole Genome Sequencing, comments
  • X-Chromosome Inactivation Studies

List of certifications/licenses

Certifications

  • ISO15189, Number: 0373, Expiration date: 2025-06-20

Participation in external programs

Standardization programs

  • Locus-specific Databases
  • Other

Data exchange Programs

  • Locus-specific Databases

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.