Amsterdam UMC Genome Diagnostics

Amsterdam UMC Genome Diagnostics, AGDx
Amsterdam University Medical Center (AUMC)
Department: Clinical Genetics
van der Boechorststraat 7
Amsterdam, Noord-Holland, Netherlands 1081 BT
Phone: +31 20 4448346
Fax: +31 20 4440744
Email: genoomdiagnostiek-vumc@amsterdamumc.nl
Online Contact: http://www.amsterdamgenomedx.com/
Website: http://www.amsterdamgenomedx.com/
Affiliated with:
- clinic, https://www.vumc.nl/genoomdiagnostiek

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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

211 conditions/phenotypes with 100 tests
Enter text to narrow down the list

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
Birt-Hogg-Dube syndrome1 test
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I1 test
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II1 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, arthrochalasia 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
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
Surfactant metabolism dysfunction, pulmonary, 11 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

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