Institute of Human Genetics

Personnel

Director: Brunhilde Wirth, PhD, Lab Director
Phone: 0049-221-47886464
Fax: 0049-221-47886465
Email: brunhilde.wirth@uk-koeln.de
Bodo Beck, MD, Genetic Counselor
Phone: 0049-221-47886811
Fax: 0049-221-47886812
Email: bodo.beck@uk-koeln.de
Jutta Becker, PhD, Laboratory Contact
Phone: 0049-221-47886811
Fax: 0049-221-47886812
Email: jutta.becker@uk-koeln.de
Florian Erger, MD, Genetic Counselor
Phone: 0049-221-47886811
Fax: 0049-221-47886812
Email: florian.erger@uk-koeln.de
Nico Fuhrmann, PhD,
Phone: +49 221 487 86811
Email: nico.fuhrmann@uk-koeln.de
Christian Netzer, MD, Genetic Counselor
Phone: 0049-221-47886811
Fax: 0049-221-47886812
Email: christian.netzer@uk-koeln.de
Nadine Reintjes, PhD, Laboratory Contact
Phone: 0049-221-47886811
Fax: 0049-221-47886812
Email: nadine.reintjes@uk-koeln.de
Vera Riehmer, PhD,
Phone: +49 221 487 86811
Email: vera.riehmer@uk-koeln.de
Julia Schreml, MD, Genetic Counselor
Phone: 0049-221-47886811
Fax: 0049-221-47886812
Email: julia.schreml@uk-koeln.de
Clara Velmans, MD, Genetic Counselor
Phone: 0049-221-47886811
Fax: 0049-221-47886812
Email: clara.velmans@uk-koeln.de

Conditions and tests

472 conditions/phenotypes with 141 tests
Enter text to narrow down the list

11p partial monosomy syndrome1 test
Achondroplasia1 test
Acquired partial lipodystrophy1 test
Actin accumulation myopathy1 test
Adams-Oliver syndrome1 test
Aicardi Goutieres syndrome1 test
AIP-Related Familial Isolated Pituitary Adenomas1 test
AKT2-related familial partial lipodystrophy1 test
Aldosterone-producing adrenal cortex adenoma1 test
Alport syndrome2 tests
Aminoglycoside-induced deafness1 test
Amyloid Cardiomyopathy, Transthyretin-related1 test
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED1 test
Amyotrophic lateral sclerosis2 tests
Amyotrophic lateral sclerosis type 11 test
Amyotrophic lateral sclerosis type 101 test
Amyotrophic lateral sclerosis type 2, juvenile1 test
Amyotrophic lateral sclerosis type 61 test
Amyotrophic lateral sclerosis type 81 test
Aneurysm-osteoarthritis syndrome1 test
Aniridia 11 test
Antenatal Bartter syndrome1 test
Arthrogryposis, distal, type 1A1 test
Arthrogryposis, distal, type 1B1 test
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
Atypical hemolytic-uremic syndrome2 tests
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with C3 anomaly1 test
Atypical hemolytic-uremic syndrome with I factor anomaly1 test
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
Atypical Rett syndrome1 test
Autosomal dominant Alport syndrome1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant hypocalcemia1 test
Autosomal dominant hypocalcemia 11 test
Autosomal dominant hypocalcemia 21 test
Autosomal dominant keratitis1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia2 tests
Autosomal dominant nocturnal frontal lobe epilepsy1 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant polycystic kidney disease2 tests
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal recessive Alport syndrome1 test
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive limb-girdle muscular dystrophy2 tests
Autosomal recessive limb-girdle muscular dystrophy type 2I1 test
Autosomal recessive limb-girdle muscular dystrophy type 2K1 test
Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
Autosomal recessive limb-girdle muscular dystrophy type 2N1 test
Autosomal recessive limb-girdle muscular dystrophy type 2O1 test
Autosomal recessive limb-girdle muscular dystrophy type 2T1 test
Autosomal recessive limb-girdle muscular dystrophy type 2U1 test
Autosomal recessive multiple pterygium syndrome2 tests
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Autosomal recessive polycystic kidney disease2 tests
Autosomal recessive primary microcephaly2 tests
Autosomal recessive proximal renal tubular acidosis1 test
Autosomal recessive pseudohypoaldosteronism type 11 test
Bardet-Biedl syndrome1 test
Bardet-Biedl syndrome 101 test
Bartter disease type 11 test
Bartter disease type 21 test
Bartter disease type 31 test
Bartter disease type 4A1 test
Bartter disease type 4B1 test
Bartter disease type 51 test
Bartter syndrome2 tests
Bartter Syndrome Type 4B, CLCNKA/CLCNKB Digenic1 test
Bartter syndrome with hypocalcemia1 test
Bartter syndrome, type 3, with hypocalciuria1 test
Becker muscular dystrophy1 test
Benign familial hematuria1 test
Benign familial neonatal-infantile seizures 11 test
Berardinelli-Seip congenital lipodystrophy1 test
Bethlem myopathy 1A2 tests
Birt-Hogg-Dube syndrome2 tests
Bone mineral density quantitative trait locus 181 test
Brittle cornea syndrome 11 test
Bruck syndrome2 tests
Bruck syndrome 11 test
Bruck syndrome 21 test
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1 test
Cardiac valvular dysplasia, X-linked1 test
Cardiomyopathy1 test
Charcot-Marie-Tooth disease1 test
CHRNA1-Related Congenital Myasthenic Syndrome1 test
CIDEC-related familial partial lipodystrophy1 test
Classic homocystinuria1 test
Cobalamin C disease1 test
Coenzyme Q10 deficiency, primary, 12 tests
Coenzyme Q10 deficiency, primary, 32 tests
Coffin Siris/Intellectual Disability1 test
Coffin-Siris syndrome2 tests
Coffin-Siris syndrome 11 test
Coffin-Siris syndrome 51 test
Coffin-Siris syndrome 71 test
Cole-Carpenter syndrome1 test
Cole-Carpenter syndrome 11 test
Cole-Carpenter syndrome 21 test
Collagen 6-related myopathy1 test
Collagen IV-related nephropathies1 test
Coloboma of optic nerve1 test
Combined molybdoflavoprotein enzyme deficiency1 test
Combined oxidative phosphorylation defect type 111 test
Complex cortical dysplasia with other brain malformations1 test
Congenital absence of salivary gland1 test
Congenital anomaly of kidney and urinary tract1 test
Congenital disorder of glycosylation1 test
Congenital fibrosis of extraocular muscles1 test
Congenital generalized lipodystrophy type 21 test
Congenital generalized lipodystrophy type 41 test
Congenital intestinal transport defect1 test
Congenital muscular dystrophy2 tests
Congenital muscular dystrophy due to LMNA mutation1 test
Congenital myasthenic syndrome2 tests
Congenital myasthenic syndrome 4C1 test
Congenital myasthenic syndrome 51 test
Congenital myopathy1 test
Congenital myopathy 10b, mild variant1 test
Congenital myopathy with fiber type disproportion1 test
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1 test
Cornelia de Lange syndrome 11 test
Craniolenticulosutural dysplasia1 test
Craniosynostosis 41 test
Craniosynostosis and dental anomalies1 test
Cystic fibrosis2 tests
Cystinosis1 test
Cystinosis, atypical nephropathic1 test
Cystinuria1 test
Cystinuria type A1 test
Cystinuria type B1 test
Cystinuria, type a/b1 test
De Lange syndrome3 tests
Dent disease type 11 test
Dentinogenesis imperfecta1 test
Diabetes insipidus, neurohypophyseal, X-linked1 test
Distal arthrogryposis2 tests
Distal arthrogryposis type 2B11 test
Distal myopathy1 test
Distal myopathy with anterior tibial onset1 test
Distal myopathy, Tateyama type1 test
Distal renal tubular acidosis1 test
DNA ligase IV deficiency1 test
Duane retraction syndrome1 test
Duane-radial ray syndrome1 test
Duchenne muscular dystrophy1 test
Early infantile epileptic encephalopathy with suppression bursts2 tests
EAST syndrome1 test
Ehlers-Danlos syndrome2 tests
Ehlers-Danlos syndrome, classic type1 test
Ehlers-Danlos syndrome, type 31 test
Ehlers-Danlos syndrome, type 42 tests
Ehlers-Danlos syndrome, type 4 variant1 test
Eichsfeld type congenital muscular dystrophy1 test
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, familial temporal lobe, 11 test
Facial nerve disorder1 test
Familial amyloid neuropathy1 test
Familial aplasia of the vermis1 test
Familial hyperaldosteronism2 tests
Familial hyperaldosteronism type II1 test
Familial hyperaldosteronism type III1 test
Familial hypocalciuric hypercalcemia1 test
Familial hypocalciuric hypercalcemia 11 test
Familial hypocalciuric hypercalcemia 21 test
Familial hypocalciuric hypercalcemia 31 test
Familial hypokalemia-hypomagnesemia2 tests
Familial idiopathic steroid-resistant nephrotic syndrome2 tests
Familial juvenile hyperuricemic nephropathy type 11 test
Familial juvenile hyperuricemic nephropathy type 21 test
Familial medullary thyroid carcinoma1 test
Familial partial epilepsy1 test
Familial partial lipodystrophy1 test
Familial partial lipodystrophy, Dunnigan type2 tests
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis1 test
Familial steroid-resistant nephrotic syndrome with sensorineural deafness2 tests
Familial thoracic aortic aneurysm and aortic dissection2 tests
Fanconi anemia1 test
Fetal akinesia deformation sequence 12 tests
Finnish congenital nephrotic syndrome1 test
Focal segmental glomerulosclerosis2 tests
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 4, susceptibility to1 test
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 61 test
Focal segmental glomerulosclerosis 91 test
Foveal hypoplasia 11 test
Freeman-Sheldon syndrome1 test
Fumarase deficiency1 test
Galloway-Mowat syndrome2 tests
Galloway-Mowat syndrome 11 test
Galloway-Mowat syndrome 31 test
Generalized epilepsy with febrile seizures plus1 test
Genetic glomerular disease1 test
Genetic hypertension1 test
Genetic interstitial lung disease1 test
Genetic neuromuscular disease1 test
Glucocorticoid-remediable aldosteronism1 test
Gnathodiaphyseal dysplasia1 test
Gordon syndrome1 test
Hecht syndrome1 test
Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
Hemolytic uremic syndrome, atypical, susceptibility to, 71 test
Hereditary amyloidosis1 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary lipodystrophy1 test
Hereditary Nephrotic Syndromes, Autosomal Recessive1 test
Hereditary pancreatitis1 test
Hereditary Paraganglioma-Pheochromacytoma Syndrome1 test
Hereditary pheochromocytoma-paraganglioma2 tests
Hereditary spastic paraplegia1 test
High bone mass osteogenesis imperfecta1 test
Homocystinuria, cblD type, variant 11 test
Horizontal gaze palsy with progressive scoliosis1 test
Hypercalcemia, infantile, 11 test
Hypercalcemia, infantile, 21 test
Hypertensive disorder1 test
Hypertrophic cardiomyopathy 11 test
Hypocalcemia, autosomal dominant, with bartter syndrome1 test
Hypochondroplasia1 test
Hypogonadotropic hypogonadism 2 with or without anosmia1 test
Hypophosphatasia1 test
Hypophosphatemic rickets1 test
Idiopathic juvenile osteoporosis2 tests
Immunoglobulin-mediated membranoproliferative glomerulonephritis1 test
Infantile nephronophthisis1 test
Infantile-onset ascending hereditary spastic paralysis1 test
Infantile-onset periodic fever-panniculitis-dermatosis syndrome1 test
Infantile-onset X-linked spinal muscular atrophy1 test
Inherited renal tubular disease1 test
Intellectual disability1 test
Intellectual disability, autosomal dominant 141 test
Intellectual disability, autosomal dominant 151 test
Intellectual disability, autosomal dominant 161 test
Isolated optic nerve hypoplasia1 test
Jeune thoracic dystrophy1 test
Juvenile amyotrophic lateral sclerosis1 test
Juvenile nephropathic cystinosis1 test
Juvenile primary lateral sclerosis1 test
Kabuki syndrome1 test
Kabuki syndrome 11 test
Kabuki syndrome 21 test
Karyomegalic interstitial nephritis1 test
Keppen-Lubinsky syndrome1 test
LAMB2-related infantile-onset nephrotic syndrome1 test
Leiomyoma of vulva and esophagus1 test
Lesch-Nyhan syndrome1 test
Lethal multiple pterygium syndrome1 test
Levy-Hollister syndrome1 test
Liddle syndrome 11 test
Limb-girdle muscular dystrophy3 tests
Limb-girdle muscular dystrophy due to POMK deficiency1 test
LIPE-related familial partial lipodystrophy1 test
Loeys-Dietz syndrome2 tests
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 41 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Malignant migrating partial seizures of infancy1 test
Mandibular hypoplasia-deafness-progeroid syndrome1 test
Mandibuloacral dysplasia with type B lipodystrophy1 test
Marfan syndrome2 tests
Maturity onset diabetes mellitus in young1 test
Maturity-onset diabetes of the young type 11 test
Maturity-onset diabetes of the young type 21 test
Maturity-onset diabetes of the young type 31 test
Meacham syndrome1 test
Meckel-Gruber syndrome1 test
MEGF10-related myopathy1 test
Methylmalonic acidemia with homocystinuria cblC2 tests
Methylmalonic aciduria and homocystinuria type cblD1 test
Microangiopathic hemolytic anemia1 test
Microcephalic osteodysplastic primordial dwarfism type II1 test
Microcephaly 3, primary, autosomal recessive1 test
Microcephaly, normal intelligence and immunodeficiency1 test
Mitochondrial DNA depletion syndrome 4b1 test
Mitochondrial non-syndromic sensorineural hearing loss1 test
Miyoshi muscular dystrophy 11 test
Miyoshi muscular dystrophy 31 test
Monogenic Non-Syndromic Obesity, Autosomal Recessive1 test
Mosaic variegated aneuploidy syndrome1 test
Mosaic variegated aneuploidy syndrome 11 test
Mosaic variegated aneuploidy syndrome 31 test
Motor neuron disease1 test
Mucopolysaccharidosis1 test
Muenke syndrome1 test
Multiple endocrine neoplasia1 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 endocrine neoplasia, type 21 test
Muscular dystrophy2 tests
Muscular dystrophy, limb-girdle, autosomal dominant1 test
Muscular dystrophy-dystroglycanopathy2 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 71 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A61 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B141 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21 test
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B31 test
Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 51 test
MYH9-related disorder1 test
Myoclonic-astatic epilepsy1 test
Myopathy, myosin storage, autosomal recessive1 test
Myosin storage myopathy1 test
Myotonic syndrome1 test
Nail-patella syndrome1 test
Neonatal Marfan syndrome1 test
Nephroblastoma1 test
Nephrocalcinosis1 test
Nephrogenic diabetes insipidus2 tests
Nephrolithiasis1 test
Nephronophthisis2 tests
Nephronophthisis 11 test
Nephronophthisis 31 test
Nephropathic cystinosis1 test
Nephrotic syndrome1 test
Nephrotic syndrome, type 21 test
Nephrotic syndrome, type 31 test
Nephrotic syndrome, type 61 test
Nephrotic syndrome, type 81 test
Nephrotic syndrome, type 92 tests
Nestor-Guillermo progeria syndrome1 test
Neurohypophyseal diabetes insipidus1 test
Neuronopathy, distal hereditary motor, autosomal dominant 81 test
Nicolaides-Baraitser syndrome2 tests
Nijmegen breakage syndrome-like disorder1 test
Nonpapillary renal cell carcinoma1 test
Noonan syndrome2 tests
Obesity due to pro-opiomelanocortin deficiency2 tests
Ocular cystinosis1 test
Oromandibular-limb hypogenesis spectrum1 test
Osteodysplastic primordial dwarfism, type 11 test
Osteogenesis imperfecta3 tests
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 111 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 131 test
Osteogenesis imperfecta type 141 test
Osteogenesis imperfecta type 151 test
Osteogenesis imperfecta type 171 test
Osteogenesis imperfecta type 52 tests
Osteogenesis imperfecta type 61 test
Osteogenesis imperfecta type 71 test
Osteogenesis imperfecta type 81 test
Osteogenesis imperfecta type 91 test
Osteogenesis imperfecta type I1 test
Osteogenesis imperfecta type III1 test
Osteogenesis imperfecta with normal sclerae, dominant form1 test
Osteogenesis imperfecta, perinatal lethal1 test
Osteoporosis with pseudoglioma2 tests
Papillary renal cell carcinoma type 11 test
Paraganglioma1 test
Paragangliomas 11 test
Paragangliomas 21 test
Paragangliomas 31 test
Paragangliomas 41 test
Paragangliomas 51 test
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1 test
Pendred syndrome1 test
Perlman syndrome1 test
Peroxisome biogenesis disorder1 test
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Pfeiffer syndrome2 tests
Pheochromocytoma2 tests
Pierson syndrome2 tests
Pleuropulmonary blastoma1 test
PLIN1-related familial partial lipodystrophy1 test
POLG-related disorder1 test
Polycystic kidney disease 21 test
Polycystic kidney disease 3 with or without polycystic liver disease1 test
Polycystic kidney disease 51 test
Polycystic kidney disease 6 with or without polycystic liver disease1 test
Polycystic kidney disease, adult type1 test
Polycystic liver disease 4 with or without kidney cysts1 test
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 2B1 test
Pontocerebellar hypoplasia type 2C1 test
Pontocerebellar hypoplasia type 2D1 test
Pontocerebellar hypoplasia type 41 test
Pontocerebellar hypoplasia type 51 test
Pontocerebellar hypoplasia type 61 test
Pontoneocerebellar hypoplasia1 test
Porphobilinogen synthase deficiency1 test
Postmenopausal osteoporosis1 test
PPARG-related familial partial lipodystrophy2 tests
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders1 test
Primary ciliary dyskinesia1 test
Primary familial hypertrophic cardiomyopathy1 test
Primary hyperoxaluria4 tests
Primary hyperoxaluria type 31 test
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Progeroid features-hepatocellular carcinoma predisposition syndrome1 test
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 dominant 31 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
Progressive sclerosing poliodystrophy1 test
Proteasome-associated autoinflammatory syndrome 11 test
Pseudohypoaldosteronism1 test
Pseudohypoaldosteronism type 11 test
Pseudohypoaldosteronism type 2A1 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Pulmonary hypertension, primary, 11 test
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis1 test
Rare genetic epilepsy1 test
Rare genetic renal disease1 test
Renal coloboma syndrome4 tests
Renal cysts and diabetes syndrome5 tests
Renal hypodysplasia/aplasia 11 test
Renal hypomagnesemia 5 with ocular involvement1 test
Renal neoplasm1 test
Renal tubular dysgenesis2 tests
Rett syndrome1 test
Rippling muscle disease 21 test
Saethre-Chotzen syndrome2 tests
Schaaf-Yang syndrome1 test
Schimke immuno-osseous dysplasia2 tests
Seckel syndrome2 tests
Seckel syndrome 11 test
Seckel syndrome 21 test
Seckel syndrome 41 test
Seckel syndrome 51 test
Seckel syndrome 71 test
Seckel syndrome 81 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
Severe myoclonic epilepsy in infancy1 test
Severe short stature1 test
Short rib-polydactyly syndrome1 test
Short stature, microcephaly, and endocrine dysfunction1 test
SHORT syndrome1 test
Spinal muscular atrophy2 tests
Sulfite oxidase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1 test
Syndromic X-linked intellectual disability Najm type1 test
TARDBP-related frontotemporal dementia1 test
Thanatophoric dysplasia type 11 test
Thrombotic thrombocytopenic purpura1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tubulointerstitial kidney disease, autosomal dominant, 21 test
TWIST1-related craniosynostosis1 test
Ullrich congenital muscular dystrophy1 test
Ullrich congenital muscular dystrophy 1A2 tests
Undetermined early-onset epileptic encephalopathy1 test
Upshaw-Schulman syndrome1 test
Van Maldergem syndrome1 test
Ventriculomegaly-cystic kidney disease1 test
Vitamin B12-responsive methylmalonic acidemia, type cblDv21 test
Von Hippel-Lindau syndrome3 tests
Werdnig-Hoffmann disease1 test
Wilms tumor 11 test
WT1-Related Disorders1 test
X-linked Alport syndrome1 test
X-linked diffuse leiomyomatosis-Alport syndrome1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling

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.