VUmc Amsterdam (KG)

Afdeling Klinische Genetica
Laboratorium voor DNA en Eiwitdiagnostiek
v.d. Boechorststraat 7
1081 BT Amsterdam

Telefoon:020 444 8346
Fax:020 444 8293

email: dnadiagnostiek@vumc.nl 

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VUmc Amsterdam (KG)

naam gen details aandoening (OMIM)
Achondroplasie FGFR3 100800
Adult-onset autosomal dominant leukodystrophy LMNB1 169500
Aicardi-Goutières syndroom RNASEH2A 610333
Aicardi-Goutières syndroom RNASEH2C 610329
Aicardi-Goutières syndroom RNASEH2B 610181
Aicardi-Goutières syndroom, type 1 TREX1 225750
Aicardi-Goutieres syndrome 5 (AGS5) SAMHD1 612952
Alzheimer disease, familial, type 1, AD1 APP 104300
Alzheimer disease, familial, type 3, AD3 PSEN1 607822
Alzheimer disease, familial, type 4, AD4 PSEN2 606889
Autisme SHANK3 209850
Autosomaal recessieve leukodystrophy, hypomyelinating, 4 (HLD4) HSPD1 612233
Azoö/oligozoöspermie (Y-deleties) AZF genen 400003
Basaal cel nevus syndroom (BCNS;Gorlin) PTCH 109400
Beals syndroom / congenitale contracturele arachnodactylie FBN2 121050
Birt-Hogg-Dub syndroom FLCN 135150
Blackfan-Diamond anemie RPS24 610629
Blackfan-Diamond syndroom RPS19 105650
Blepharophimosis, ptosis, en epicanthuis inversus (BPES) FOXL2 110100
Borst- en ovariumkanker, erfelijk (BRCA1) BRCA1 604370
Borst- en ovariumkanker, erfelijk (BRCA2) BRCA2 612555
Bruck syndroom type 1 PLOD2 259450
Carpenter syndroom RAB23 201000
Cleft lip or palate IRF6 607199
Congenitale bilaterale aplasie vas deferens (CBAVD) CFTR 277180
Craniosynostosis FGFR2 176943
Craniosynostosis FGFR1 136350
Craniosynostosis FGFR3 602849
Craniosynostosis type 1 TWIST1 601622
Cutis laxa ELN 123700
Cystische fibrose CFTR 219700
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss FKBP14 614557
Ehlers-Danlos syndrome, the musculocontractural type CHST14 601776
Ehlers-Danlos syndroom type Kyphoscoliose type PLOD1 225400
Ehlers-Danlos syndroom type VII, recessieve vorm ADAMTS2 225410
Ehlers-Danlos syndroom, klassiek type (I, II) COL5A1 130010
Ehlers-Danlos Syndroom, type IV COL3A1 130050
Ehlers-Danlos Syndroom, type VII COL1A1 130060
Ehlers-Danlos Syndroom, type VII COL1A2 130060
Familiaire aorta aneurysma?s (FAA); Thoracale aorta aneurysma?s en dissecties (TAAD) ACTA2 608967
Familiaire porencephalie COL4A2 120090
Fanconi anemie type B FANCB 610832
Fanconi anemie type I FANCI 609053
Fanconi anemie type J BRIP1 609054
Fanconi anemie type L FANCL 608111
Fanconi anemie type M FANCM 609644
Fanconi anemie type N PALB2 610832
Fanconi anemie type O RAD51C 613390
Fanconi Anemie, type A FANCA 227650
Fanconi Anemie, type C FANCC 227645
Fanconi Anemie, type D1 FANCD1 605724
Fanconi Anemie, type D2 FANCD2 227646
Fanconi Anemie, type E FANCE 600901
Fanconi Anemie, type F FANCF 603467
Fanconi Anemie, type G FANCG 602956
Fragiel X syndroom (FRAXA) FMR1 300624
Frontotemporal dementia (FTD) C9ORF72 600274
Frontotemporal dementia (FTD) CHMP2B 600795
Frontotemporal dementia (FTD) GRN 607485
Frontotemporale dementie (FTD), ziekte van Pick MAPT 172700
Glycine n-methyltransferase deficiency GNMT 606664
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) CSF1R 221820
Hyperferritinemie-cataract syndroom FTL 600886
Hypochondroplasie FGFR3 146000
Hypomyelination and congenital cataract (HCC) FAM126a 610532
Langer mesomele dysplasie SHOX 249700
Leri-Weill dyschondrosteosis (LWD) SHOX 127300
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7), 4H syndroom POLR3A 607694
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8), 4H syndroom POLR3B 614381
Leukoencephalopathie met vanishing white matter (VWM) EIF2B3 603896
Leukoencephalopathie met vanishing white matter (VWM) EIF2B1 603896
Leukoencephalopathie met vanishing white matter (VWM) EIF2B5 603896
Leukoencephalopathie met vanishing white matter (VWM) EIF2B2 603896
Leukoencephalopathie met vanishing white matter (VWM) EIF2B4 603896
LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY RNASET2 612951
Limb girdle myasthenie DOK7 254300
Loeys-Dietz syndrome type 4 /TAAD TGFB2 614816
Loeys-Dietz syndroom of aortic aneurysm ? arterial tortuosity syndrome. TGFBR2 609192
Loeys-Dietz syndroom of aortic aneurysm ? arterial tortuosity syndrome. TGFBR1 609192
Lynch Syndroom (HNPCC) MLH1 609310
Lynch Syndroom (HNPCC) MSH6 600678
Lynch Syndroom (HNPCC) MSH2 120435
Lynch Syndroom (HNPCC) PMS2 614337
Lynch Syndroom (HNPCC), microsatelliet instabiliteit n.v.t. n.v.t.
Marfan syndroom SMAD3 603109
Marfan syndroom type II TGFBR2 154705
Marfan syndroom type II TGFBR1 154705
Marfan, syndroom van FBN1 154700
Megalencephale leukoencephalopathie met subcorticale cysten (MLC) MLC1 604004
Mendes-Da Costa syndroom n.v.t. 302000
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS; SCHMID DYSPLASIE COL10A1 156500
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3 245600
Obesitas MC4R 601665
Osteogenesia imperfecta (alle typen) COL1A1 166200
Osteogenesia imperfecta (alle typen) COL1A2 166210
Osteogenesis imperfecta type IX, recessief SP7 259440
Osteogenesis imperfecta type IX, recessief PPIB 259440
Osteogenesis imperfecta type IX, recessief CRTAP 259440
Osteogenesis imperfecta type IX, recessief SERPINH 259440
Osteogenesis imperfecta type V IFITM5 610967
Osteogenesis imperfecta type VIII, recessief CRTAP 610915
Osteogenesis imperfecta type VIII, recessief SERPINH 610915
Osteogenesis imperfecta type VIII, recessief SP7 610915
Osteogenesis imperfecta type VIII, recessief PPIB 610915
Osteogenesis imperfecta type X, recessief SERPINH1 613848
Parkinson SLC30A10 611146
Parkinson, type 2, juveniel, autosomaal recessief, (Park2) PARKIN 600116
Parkinson, type 4, autosomaal dominant Lewy body (Park4) SNCA 605543
Parkinson, type 6, autosomaal recessief, early-onset (Park6) PINK1 605909
Parkinson, type 7, autosomaal recessief, early-onset (Park7) DJ-1 606324
Parkinson, type 8 (Park8) LRRK2 607060
Parkinson, type 9 (PARK9) ATP13A2 610513
Parkinson, type15 (PARK15) FBXO7 605648
Pelizaeus-Merzbacher, ziekte van PLP1 312080
Pelizaeus-Merzbacher-like disease (PMLD), Leukodystrophy, hypomyelinating, 3 (HLD3) AIMP1 260600
Pelizaeus-Merzbacher-like disease, autosomaal recessief GJA12 608804
Peutz-Jeghers syndroom STK11 175200
Polyposis coli, familiaire adenomateuze APC 175100
Polyposis, MUTYH associated (MAP) MUTYH 608456
Popliteaal pterygium syndroom IRF6 119500
Porencephaly, erfelijke COL4A1 175780
Primaire pulmonale hypertensie SMAD9 178600
Primaire pulmonale hypertensie (PPH1) BMPR2 178600
Recessieve Osteogenesis imperfecta type VII CRTAP 610682
Recessieve Osteogenesis imperfecta type VIII LEPRE1 610915
Roberts syndroom ESCO2 268300
Short Stature, idiopathische SHOX 300582
Spastische paraplegie type 35 FA2H 612319
Spastische paraplegie, X-gebonden type 2 (SPG2) PLP1 312920
Stickler syndroom, Autosomaal dominant, type 1 COL2A1 108300
Stickler syndroom, autosomaal dominant, type 4 COL9A1 614134
Stickler syndroom, autosomaal recessief, type 5 COL9A2 614284
Supravalvulaire aortastenose (SVAS) ELN 185500
Surfactant proteïne B deficiëntie (SFTPB) SFYPB 178640
Thanatofore dysplasie FGFR3 187600
Thoracale aorta aneurysma's en dissecties (TAAD) MYLK 613780
Thoracale aorta aneurysma's en dissecties (TAAD) SMAD3 613795
Thoracale aorta aneurysma?s type 4; (AAT of FAA) MYH11 132900
Uniparentale disomie (UPD) n.v.t. n.v.t.
Van der Woude syndroom (VWS) IRF6 119300