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GTR Home > Laboratories > Amsterdam UMC Genome Diagnostics

Amsterdam UMC Genome Diagnostics

GTR Lab ID: 500051, Last updated:2021-01-11
Annual Review past due read more

Personnel

  • Director: Erik Sistermans, PhD, Lab Director
  • Resie Vervenne, PhD, Staff
  • Elles Boon, Staff
    Phone: +31 204440747
    Fax: +31 204440744
    Email: genoomdiagnostiek-vumc@amsterdamumc.nl
  • Hans Gille, PhD, Staff
  • Alessandra Maugeri, PhD, Staff

Conditions and tests

  • ABri amyloidosis1 test
  • Achondroplasia1 test
  • Acrocephalosyndactyly type I1 test
  • ADan amyloidosis1 test
  • Adult-onset autosomal dominant demyelinating leukodystrophy1 test
  • Aicardi Goutieres syndrome6 tests
  • Aicardi-Goutieres syndrome 11 test
  • Aicardi-Goutieres syndrome 21 test
  • Aicardi-Goutieres syndrome 31 test
  • Aicardi-Goutieres syndrome 41 test
  • Aicardi-Goutieres syndrome 51 test
  • Aicardi-Goutieres syndrome 61 test
  • Aicardi-Goutieres syndrome 71 test
  • Alzheimer disease4 tests
  • Alzheimer disease 31 test
  • Alzheimer disease 42 tests
  • Alzheimer disease type 11 test
  • Amyotrophic lateral sclerosis1 test
  • Amyotrophic lateral sclerosis type 11 test
  • Amyotrophic lateral sclerosis type 101 test
  • Amyotrophic lateral sclerosis type 151 test
  • Amyotrophic lateral sclerosis type 61 test
  • Aortic aneurysm, familial thoracic 42 tests
  • Aortic aneurysm, familial thoracic 62 tests
  • Aortic aneurysm, familial thoracic 82 tests
  • Aortic valve disease 13 tests
  • Arterial tortuosity syndrome3 tests
  • Autism spectrum disorder2 tests
  • Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
  • Autosomal dominant Parkinson disease 13 tests
  • Autosomal dominant Parkinson disease 42 tests
  • Autosomal dominant Parkinson disease 82 tests
  • Autosomal recessive cutis laxa type 2B1 test
  • Autosomal recessive early-onset Parkinson disease 72 tests
  • Autosomal recessive juvenile Parkinson disease 22 tests
  • Autosomal recessive Parkinson disease 141 test
  • Azoospermia1 test
  • Basal ganglia calcification, idiopathic, 42 tests
  • Basal ganglia calcification, idiopathic, 51 test
  • Basal ganglia calcification, idiopathic, 62 tests
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome type 11 test
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome type 21 test
  • Bone fragility with contractures, arterial rupture, and deafness3 tests
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis1 test
  • Brain small vessel disease 1 with or without ocular anomalies1 test
  • Brittle cornea syndrome 13 tests
  • Bruck syndrome 11 test
  • Carcinoma of pancreas2 tests
  • Carpenter syndrome1 test
  • Cerebellar ataxia1 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21 test
  • Chorea-acanthocytosis1 test
  • Coats plus syndrome1 test
  • Coenzyme Q10 deficiency, primary, 11 test
  • Congenital aneurysm of ascending aorta2 tests
  • Congenital contractural arachnodactyly3 tests
  • Craniosynostosis syndrome5 tests
  • Crouzon syndrome3 tests
  • Cutis laxa5 tests
  • Cutis laxa, autosomal dominant 11 test
  • Cutis laxa, autosomal recessive, type 1A1 test
  • Cutis laxa, autosomal recessive, type 1B1 test
  • Cystic fibrosis1 test
  • Cystic leukoencephalopathy without megalencephaly1 test
  • Diamond-Blackfan anemia9 tests
  • Diamond-Blackfan anemia 11 test
  • Diamond-Blackfan anemia 101 test
  • Diamond-Blackfan anemia 31 test
  • Diamond-Blackfan anemia 41 test
  • Diamond-Blackfan anemia 51 test
  • Diamond-Blackfan anemia 61 test
  • Diamond-Blackfan anemia 71 test
  • Diamond-Blackfan anemia 81 test
  • Diamond-Blackfan anemia 91 test
  • DiGeorge syndrome1 test
  • Dopa-responsive dystonia1 test
  • Dystonia 121 test
  • Early onset osteoporosis1 test
  • Early-onset Parkinson disease 201 test
  • Ectopia lentis1 test
  • Ehlers-Danlos syndrome4 tests
  • Ehlers-Danlos syndrome due to tenascin-X deficiency3 tests
  • Ehlers-Danlos syndrome, arthrochalasis type1 test
  • Ehlers-Danlos syndrome, classic type3 tests
  • Ehlers-Danlos syndrome, dermatosparaxis type3 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type 16 tests
  • Ehlers-Danlos syndrome, musculocontractural type3 tests
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type3 tests
  • Ehlers-Danlos syndrome, type 33 tests
  • Ehlers-Danlos syndrome, type 44 tests
  • Familial Alzheimer disease2 tests
  • Familial cancer of breast1 test
  • Familial thoracic aortic aneurysm and aortic dissection1 test
  • Fanconi anemia complementation group A2 tests
  • Fanconi anemia complementation group B2 tests
  • Fanconi anemia complementation group C2 tests
  • Fanconi anemia complementation group E1 test
  • Fanconi anemia complementation group F2 tests
  • Fanconi anemia complementation group G2 tests
  • Fanconi anemia complementation group I1 test
  • Fanconi anemia complementation group J1 test
  • Fanconi anemia complementation group L1 test
  • Fanconi anemia complementation group N1 test
  • Fanconi anemia complementation group O1 test
  • Fetal akinesia deformation sequence 11 test
  • Frontotemporal dementia5 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 11 test
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 21 test
  • 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 71 test
  • Geleophysic dysplasia1 test
  • Gorlin syndrome1 test
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
  • Hemosiderosis, systemic, due to aceruloplasminemia1 test
  • Hereditary diffuse leukoencephalopathy with spheroids2 tests
  • Hereditary hyperferritinemia with congenital cataracts1 test
  • Hereditary spastic paraplegia 111 test
  • Hereditary spastic paraplegia 21 test
  • Hereditary spastic paraplegia 352 tests
  • Homocystinuria1 test
  • Hypochondroplasia1 test
  • Hypomyelinating leukodystrophy 111 test
  • Hypomyelinating leukodystrophy 21 test
  • Hypomyelinating leukodystrophy 31 test
  • Hypomyelinating leukodystrophy 41 test
  • Hypomyelinating leukodystrophy 61 test
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1 test
  • Hypomyelination and Congenital Cataract1 test
  • Hypophosphatasia1 test
  • Idiopathic basal ganglia calcification 11 test
  • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 21 test
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia1 test
  • Infantile neuroaxonal dystrophy1 test
  • Jackson-Weiss syndrome3 tests
  • Juvenile onset Parkinson disease 19A1 test
  • Kniest dysplasia1 test
  • Kufor-Rakeb syndrome2 tests
  • Langer mesomelic dysplasia syndrome1 test
  • Larsen syndrome3 tests
  • Larsen-like syndrome, B3GAT3 type2 tests
  • Leri-Weill dyschondrosteosis1 test
  • Leukodystrophy8 tests
  • Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1 test
  • Lewy body dementia1 test
  • Loeys-Dietz syndrome3 tests
  • Marfan syndrome5 tests
  • Marshall syndrome1 test
  • Metaphyseal chondrodysplasia, Schmid type1 test
  • Muenke syndrome1 test
  • Multiple epiphyseal dysplasia1 test
  • Multiple fibrofolliculomas1 test
  • Neonatal acute respiratory distress due to SP-B deficiency1 test
  • Neurodegeneration with brain iron accumulation2 tests
  • Neurodegeneration with brain iron accumulation 2B1 test
  • Neurodegeneration with brain iron accumulation 42 tests
  • Neurodegeneration with brain iron accumulation 51 test
  • Neurodegeneration with brain iron accumulation 61 test
  • Neuroferritinopathy1 test
  • Neuronal ceroid lipofuscinosis 131 test
  • Niemann-Pick disease type C, adult neurologic onset1 test
  • Niemann-Pick disease, type C11 test
  • Niemann-Pick disease, type C21 test
  • Obesity, autosomal dominant1 test
  • Oligospermia1 test
  • Osteogenesis imperfecta3 tests
  • Osteogenesis imperfecta type I2 tests
  • Osteoporosis with pseudoglioma1 test
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive1 test
  • Ovarian cancer1 test
  • Parkinson disease6 tests
  • Parkinson disease 161 test
  • Parkinson disease 171 test
  • Parkinson disease 18, autosomal dominant, susceptibility to2 tests
  • Parkinson disease 211 test
  • Parkinson disease 62 tests
  • Parkinsonian-pyramidal syndrome1 test
  • Parkinsonism-dystonia, infantile1 test
  • Pelizaeus-Merzbacher disease1 test
  • Peutz-Jeghers syndrome1 test
  • Pfeiffer syndrome3 tests
  • Pick disease1 test
  • Pigmentary pallidal degeneration1 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 21 test
  • Porencephalic cyst2 tests
  • Pulmonary arterial hypertension2 tests
  • Pulmonary hypertension, primary, 21 test
  • Saethre-Chotzen syndrome2 tests
  • SHOX-related short stature1 test
  • Shprintzen-Goldberg syndrome3 tests
  • Spastic paraplegia1 test
  • Spondyloepimetaphyseal dysplasia with joint laxity3 tests
  • Spondyloepiphyseal dysplasia congenita1 test
  • Spondyloepiphyseal dysplasia with congenital joint dislocations3 tests
  • Stickler syndrome1 test
  • Stiff skin syndrome1 test
  • Supravalvar aortic stenosis1 test
  • Thanatophoric dysplasia type 11 test
  • Thoracic aortic aneurysm1 test
  • Van den Ende-Gupta syndrome3 tests
  • Van der Woude syndrome 11 test
  • Velocardiofacial syndrome1 test
  • Weill-Marchesani syndrome1 test
  • Weill-Marchesani syndrome 2, dominant1 test
  • Williams syndrome1 test
  • Wilson disease2 tests
  • X-linked dystonia-parkinsonism1 test
  • X-linked parkinsonism-spasticity syndrome1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Prenatal testing
  • Custom Sequence Analysis
  • Custom microarray analysis
  • Mutation Confirmation
  • Whole Exome Sequencing

List of certifications/licenses

Certifications

  • ISO 15189, Number: 130, Expiration date: 2022-09-01

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.