AMC Amsterdam

Afdeling Klinische Genetica, M1
DNA Diagnostiek Laboratorium
Meibergdreef 9
1105 AZ Amsterdam

Telefoon:020 566 7899
Fax:020 566 9389

email: KG_DNA@amc.uva.nl  

AANVRAAGFORMULIEREN

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Amsterdam KG

Aandoening Gen Details aandoening (OMIM)
Ziekte van Stargardt type 1 ( + MLPA P151-P152) ABCA4 248200
Neonatale diabetes mellitus (+MLPA P117) ABCC8; GCK; GLUD1; HNF1A; HNF4A; INS; KCNJ11 606176
Hyperinsulinisme ABCC8; GCK; GLUD1; HNF4A; INS; KCNJ11; HNF1A; HADH 256450
Azoöspermie - oligozoöspermie AZF; DAZ 415000
Macula dystrofie (vitelliform) / Best disease BEST1; VMD2 153700, 607854
Cholestase BRIC1; ATP8B1; PFIC1; ATP8B1; NR1H4; FXR; BRIC2; ABCB11; PFIC2; ABCB11; LPAC; ABCB4; ICP; ABCB4; ICP; ABCB11; PFIC3; ABCB4 211600
Fronto Temporaal Dementie (FTD; ALS) C9ORF72 105550
Congenitale stationaire nachtblindheid CABP4; GRM6; TRPM1; GPR179; NYX; CACNA1F 310500
Catecholaminerge polymorfe ventriculaire tachycardie (CPVT) CALM1; CALM2; CALM3; QASQ2; RYR2 604772
Primair glaucoom CYP1B1; MYOC; OPTN 231300
Cardiomyopathie ACTC1; ACTN2; ALPK3; ANKRD1; BAG3; CALR3; CAV3; CDH2; CRYAB; CSRP3; CTNNA3; DES; DSC2; DSG2; DSP; EMD (STA); FHL1; FHL2; FLNC; GLA; HCN4; JPH2; JUP; LAMA4; LAMP2; LDB3; LMNA; MIB1; MYBPC3; MYH6; MYH7; MYL2; MYL3; MYOZ2; MYPN; NEXN; PKP2; PLN; PPA2; PRDM16; PRKAG2; RBM20; SCN5A; TAZ; TCAP; TMEM43; TNNC1; TNNI3; TNNT2; TPM1; TTN; TTR; VCL 125660, 606685
Cardiomyopathie - Sanger per gen DES; DSC2; DSG2; DSP; EMD (STA); GLA; JUP; LAMP2; LMNA; MYBPC3; MYH7; MYL2; MYL3; PKP2; PLN; PRKAG2; SCN5A; TAZ; TMEM43; TNNI3; TNNT2; TPM1; TTR Cardiomyopathie
Hyper IgE syndroom DOCK8; STAT3 147060
Congenitaal cataract mat faciale dysmofien en neuropathie CTDP1 (c.863+389C>T) 604168
Doyne’s Honeycomb dystrofie EFEMP1 126600
Neutropenie ELANE; HAX1; G6PC3; WAS; GFI1 202700; 610738; 614161
PXE-like (ENPP1/GCCX) ENPP1; GCCX 610842
Stollingsafwijking (FII, G20210A-mutatie en FV, Leiden-mutatie) FII; G20210A; FV Leiden 612309, 176930
Prematuur ovarieel falen (POF), FMR1 premutaties FMR1; POF 300624; 311360; 616947; 617442
Axenfeld-Rieger syndroom FOXC1; PITX2 109120
IPEX (FOXP3) FOXP3 304790
Congenitale hartafwijking (o.a. Tetralogie van fallot, ASD, VSD GATA4; NKX2-5 187500
Ziekte van Fabry (+MLPA P159) GLA 301500
Pseudohypoparathyroidisme GNAS 603233, 103580
Simpson-Golabi-Behmel syndroom ( + MLPA P154) GPC3 312870
Distale Hereditaire Motorische Neuropathie HMN; ALS; HSPB1; HSPB8; GARS; BSCL2; SETX 182960
Darmkanker, Polyposis, Lynch NGS panel HNPCC; MAP; ACVRL1, APC, AXIN2, BMPR1A, ENG, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TSC1, TSC2 120435, 114500
Erfelijke drukneuropathie HNPP; PMP22 162500
Primaire hypertrofische osteoarthropathie HPGD; SLCOA1 601688
Hereditaire sensorische en autonome neuropathie HSANTLC1; RAB7A; HSN2; NGFB; TRPV4 201300
Korte QT syndroom KCNH2; KCNQ1; KCNJ2; SQT; SQT1; SQT2; SQT3 609620, 609622, 609622
Jervell-Lange Nielsen syndroom KCNQ1; KCNE1; JLN; JLN1; JLN2 220400, 612347
Wolff-Parkinson-White syndroom LAMP2; NKX2-5; PRKAG2 194200
Microcephalie, primair autosomaal recessief MCPH1; WDR62; ASPM; CENPJ; STIL 251200
Rett syndroom MECP2; CDKL5; FOXG1 312750
Silver-Russell syndroom (bloed) Methylering 11p15 (H19); CDKN1C; UPD7 180860
Kagami-Ogata syndroom (paternale UPD14) Methylering 14q32 (MEG3); UPD14 608149
UPD20 syndroom Methyleringstest (MLPA ME031); UPD20 139320
Hyperhomocysteïnemie (MTHFR) MTHFR 236250
Myotubulaire myopathie MTM1 300171
Volendam founder mutaties MUSK; TSEN54; PEX7; CRTAP; POLG; LRAT; CRB1; USH2A; ADGRV1; PAH; CCDC114 615067, 277470
Cornelia de Lange syndroom NIPBL; SMC1A; HDAC8 300882, 122470, 300590
Benigne erfelijke chorea (BHC) NKX2-1; TITF1 118700
Congenitale melanocytische naevus NRAS 164790
Opticus atrofie type 1 (+MLPA P229) OPA1; OPA3 165500; 165300
Aniridie, Anoftalmie OTX2; PAX6; SOX2; SIX6 106210
Microftalmie OTX2; PAX6; SOX2; SIX6 610125, 607932
Ponto-Cerebellaire Hypoplasie PCH; CASK; EXOSC3; RARS2; TSEN2; TSEN34; TSEN54; TSEN15; TOE1; VRK1 607596; 277470; 614969
Camptodactylie-arthropathie-cox vara - pericarditis syndroom PRG4 208250
Carney complex type 1 PRKAR1A 188830
Centraal areolaire chorioide dystrofie (PRPH2) (RDS) PRPH2; RDS 608133
Ovariumdysgenese (PSMC3IP) PSMC3IP 608665
Chondrodysplasie PTH1R 168468
Primair falen van eruptie PTH1R 168468
Capillaire malformatie - arterioveneuse malformaties (CM-AVM) RASA1; CVAVM 608354
Retinitis pigmentosa, X-linked RPGR; RP2 268000; 312600; 312610; 613731
Cardio Spoed pakket RYR2; KCNQ1; KCNH2; LMNA; SCN5A; PLN; LQT1; LQT2 192500, 613688
Atrial standstill SCN5A 600163
Brugada syndroom SCN5A 601144
Sick sinus syndroom SCN5A; HCN4 608567
Geleidingsstoornissen SCN5A; TRPM4;(+ 48 genen) 115080
Cherubisme (reuscel granuloom) SH3BP2 118400
Pendred syndroom ( + MLPA P280) SLC26A4 274600
Juveniele polyposis coli (+MLPA P158) SMAD4; BMPR1A 174900
Nicolaides-Baraitser syndroom SMARCA2 601358
Ziekte van Niemann Pick (bloed) SMPD1; NPC1; NPC2 2572200, 607625, 607616, 257200
TRP syndroom ( + MLPA P228) TRPS1 190350
Hyperthyreoidie TSHR 275200
Beckwith-Wiedemann syndroom (BWS) UPD; H19; CDKN1C; KCNQ1OT1; LIT1 130650
Galloway-Mowat syndroom WDR73 616144
Retinoschisis, X-linked XLRS1 312700
Desbuquois dysplasie (type2) XYLT1 615777
Hereditaire neuralgische amyotrofie (HNA) SEPT9 162100
Retinitis pigmentosa blindheidspanel ABCA4; ARHGEF18; ARL2BP; ARL3; ARL6; BBS1; BBS2; BEST1; C2orf71; C8orf37; CA4; CERKL; CLRN1; CNGA1; CNGB1; CRB1; CRX; CYP4V2; DHDDS; DHX38; EMC1; EYS; FAM161A; FSCN2; GUCA1B; IDH3B; IFT172; IMPDH1; IMPG2; KIZ; KLHL7; LRAT; MAK; MERTK; MVK; NR2E3; NRL; OFD1; PDE6A; PDE6B; PDE6G; POMGNT1; PRCD; PROM1; PRPF3; PRPF31; PRPF4; PRPF6; PRPF8; PRPH2; RBP3; RDH12; REEP6; RGR; RHO; RLBP1; ROM1; RP1; RP1L1; RP2; RP9; RPE65; SAG; SEMA4A; SLC7A14; SNRNP200; SPATA7; SPP2; TOPORS; TTC8; TULP1; USH2A; ZNF513 268000; 312600; 312610; 613731
Dubin-Johnsen syndroom ABCC2 237500
Pseudoxanthoma elasticum ( + MLPA P092) ABCC6 264800
Lymfoedeem, Hennekam; Hypotrichosis; Distichiasis ABCC9, ALG8, BRAF, CBL, CCBE1, CDK19, DCHS1, FAT4, FLT4, FOXC2, GATA2, GJA1, GJC2, GLA, HGF, HRAS, ITGA9, KIF11, KRAS, MAP2K1, MAP2K2, MET, MPI, NAGA, NRAS, PEPD, PMM2, PTPN11, PTPN14, RAF1, RELN, SHOC2, SOS1, SOX18, SPRED1, TUBGCP6, VEGFC 153400; 235510; 604379
Metabole neurodegeneratieve aandoeningen, incl/excl psychose ABCD1; COQ8A; ADSL; ALAD; ALDH7A1; APTX; ARG1; ARSA; ASL; ASS1; ATP7B; BCKDHA; BCKDHB; CBS; COQ2; COQ9; CPOX; CPS1; CYP27A1; DBT; DDC; DLD; GAMT; GATM; GCDH; GCH1; GNS; HEXA; HGSNAT; HLCS; HMBS; HPRT1; IDS; IDUA; IVD; LMBRD1; MAN2B1; MLYCD; MMAA; MMAB; MMACHC; MMADHC; MOCS1; MOCS2; MTHFR; MTR; MTRR; MUT; NAGLU; NAGS; NPC1; NPC2; OTC; PCBD1; PCCA; PCCB; PDSS1; PDSS2; PNP; PNPO; PPOX; PTS; QDPR; SGSH; SLC2A1; SLC6A19; SPR 277400, 261640, 248600
Vaatmalformaties ACVRL1; ANTXR1; BMPR2; CAV1; CCM2; ENG; GDF2; GLMN; KCNK; KDR;KRIT1; PDCD10; PTEN; RASA1; SMAD4; SOX18; TEK 606893
Cowden syndroom AKT1; PIK3CA; PTEN; SDHB; SDHD 158350
Obesitas ALMS1; BDNF; CPE; GNAS; LEP; LEPR; MAGEL2; MC3R; MC4R; NPY4R; PCSK1; PHF6; POMC; SIM1 ; VPS13B 601665
Familiaire amyloïde polyneuropathie APOA1 107680
Hypobetalipoproteinemie: laag LDL (< 2 mmol/l) APOB; PCSK9; ANGPTL3; MTTP 605019
Dysbetalipoproteïnemie APOE 107741
Preconceptioneel Ashkenazi founder mutaties ASPA; BLM; CFTR; FANCC; G6PC; HEXA; IKBKAP; MCOLN1; SMPD1 219700
Familiaire hypercholanemie (FHCA) BAAT 607748
Blindheidspanel Cone (rod) dystrofie BCA4; ADAM9; AIPL1; ATF6; BEST1; C1QTNF5; C21orf2; C8orf37; CACNA1F; CDHR1; CERKL; CEP78; CFH; CNGA3; CNGB3; CNNM4; CRX; CTNNA1; ELOVL4; GUCA1A; GUCA1B; GUCY2D; IMPG1; KCNV2; MMACHC; MFSD8; PDE6C; PDE6H; POC1B; PROM1; PRPH2; RAB28; RDH5; RIMS1; RP1L1; RPGRIP1; SEMA4A; TIMP3; TTLL5; UNC119 304020
Amyotrofische lateraal sclerose C9ORF72; SOD1; ANG; FUS; TARDBP; SETX; VCP; ALS-FTD, ALS-FTD - C9ORF72 105400
Achromatopsia CNGB3; CNGA3 605080
Ziekte van Bethlem COL6A1; COL6A2; COL6A3 158810
Methemoglobinemie CYB5R3; DIA1 250800
Familiaire hyperaldosteronisme type 1 (GRA) CYP11B1-CYP11B2; CYP11B1; CYP11B2; KCNJ5; GRA 103900
Cerebrotendineuze xanthomatose CYP27A 213700
Statine resistentie CYP7A1 118455
XY Gonadale dysgenesie DHH 605423
Ventriculaire fibrillatie, paroxysmale DPP6 612956
Carvajal syndroom DSP 125647
Skin fragility woolly hair syndroom DSP 607655
Dystonieën DYT11; SGCE; DYT1; DYT6; THAP1 128100
Musculaire dystrofie; Emery Dreifuss; Limb Girdle EMD(STA); LMNA 310300; 159001; 159000; 181350
Hemofilie A (F8 + MLPA P178) F8 306700
Adenomateuse polyposis coli FAP; ACVRL1; APC; AXIN2; BMPR1A; ENG; EPCAM; GREM1; MLH1; MSH2; MSH6;MUTYH; NTHL1; PMS2; POLD1; POLE; PTEN; SMAD4; STK11; TSC1; TSC2 175100
Fragiele X syndroom FMR1; FraX 300624
Fragiele X tremor/ataxia syndroom FMR1; FraX; TAS 300623
Nystagmus, congenitale FRMD7 300628
Ziekte van Gaucher GBA 608013
Ziekte van Charcot Marie Tooth type 4 (CMT) GDAP1; MTMR2; SH3TC2; NDRG1; FIG4; FGD4; CTDP1 214400
Ziekte van Charcot Marie Tooth x-linked dominant type 1 (CMT; GJB1) GJB1 302800
Albright's erfelijke osteodystrofie ( + MLPA ME031) GNAS 139320
McCune-Albright syndroom (MAS) GNAS 174800
Pseudopseudohypoparathyroidisme ( + MLPA ME031) GNAS 603233
Hemihypertrofie (UPD) H19; KCNQ1OT1; LIT1 235000
Ziekte van Tay-Sachs ( + MLPA P199) HEXA 272800
Neuropathie HMSN; HSN; DSMA; DHMN;AARS; ABHD12; AIFM1; ARHGEF10; ARSA; ASAH1; ATL1; ATL3; ATM; ATP7A; BICD2; BSCL2; CCT5; COX6A1; CTDP1; DCAF8; DCTN1; DGUOK; DHH; DHTKD1; DNAJB2; DNM2; DNMT1; DST; DYNC1H1; EGR2; FAM134B; FBLN5; FBXO38; FGD4; FIG4; FLVCR1; GALC; GAN; GARS; GDAP1; GJB1; GJB3; GNB4; HARS; HINT1; HK1; HOXD10; HSPB1; HSPB3; HSPB8; IFRD1; IGHMBP2; IKBKAP; KARS; KIF1A; KIF1B; KIF5A; KLHL9; LAS1L; LITAF; LMNA; LRSAM1; MAPT; MARS; MED25; MFN2; MPZ; MTMR2; MYH14; NDRG1; NEFL; NGF; NIPA1; NTRK1; PDK3; PEX1; PEX7; PHYH; PLA2G6; PLEKHG5; PMM2; PMP22; PRPS1; PRX; RAB7; REEP1; RNF170; SBF1; SBF2; SCN10A; SCN11A; SCN9A; SCO2; SEPT9; SETX; SH3TC2; SLC12A6; SLC5A7; SOX10; SPTLC1; SPTLC2; SURF1; SYT2; TDP1; TFG; TK2; TRIM2; TRPV4; UBA1; VAPB; VCP; WNK1; YARS 302800
Darmkanker / Lynch syndroom HNPCC; MLH1; MSH2 ; MSH6 ; PMS2; EPCAM 120435
Erfelijke prostaat kanker HOXB13 610997
Thyreoidale hypothyreoïdie NGS pakket HT; CHT; TH; DUOX2; DUOXA2; FOXE1; HOXA3; IYD; NKX2-1; PAX8; SLC26A4; SLC5A5; TG ; TPO; TPST2; TSHR ; HESX1; IGSF1; IRS4; LHX3; LHX4; OTX2; PROP1 ; POU1F1; SOX2; TBL1X; SOX3; TRH; TRHR; TSHB; ATP8B1; ABCB11; ABCB4; NR1H4; FXR 275200, 241850, 274400
Centrale hypothyreoidie HT; THT; CHTH; DUOX2; DUOXA2; FOXE1; HOXA3; IYD; NKX2-1; PAX8; SLC26A4; SLC5A5; TG ; TPO; TPST2; TSHR ; HESX1; IGSF1; IRS4; LHX3; LHX4; OTX2; PROP1 ; POU1F1; SOX2; TBL1X; SOX3; TRH; TRHR; TSHB; ATP8B1; ABCB11; ABCB4; NR1H4; FXR 300888
Riley-Day syndroom IKBKAP 223900
Ziekte van Danon LAMP2 300257
NGS Leber congenitale amaurosis LCA; AIPL1; CABP4; CEP290; CRB1; CRX; DTHD1; GDF6; GUCY2D; IMPDH1; IQCB1; KCNJ13; LCA5; LRAT; NMNAT1; OTX2; PRPH2; RD3; RDH12; RPE65; RPGRIP1; SPATA7; TULP1 204000, 241000
Hypoalfalipoproteinemie: laag HDL (< 0.8 mmol/l) LCAT; ABCA1; APOA1 604091
Familiaire Hypercholesterolemie LDLR; APOB; PCSK9 143890
Cholesterolester stapelingsziekte LIPA 613497
Lipodystrofie ( + MLPA P048) LMNA 151660
Hypertriglyceridemie: hoog TG (> 5 mmol/l) LPL; APOC2; GPIHBP1; APOA5 145750
Lange QT syndroom, Andersen syndroom, Timothy syndroom LQT; LQT1; LQT2; LQT3; LQT5; LQT6; LQT9; SCN5A; CACNA1C; CACNB2; GPD1L; SCN1B; SCN3B; KCNE3; HCN4; KCNJ8; KCND3; KCNE1L; RANGRF; RYR2; CASQ2; TRDN; CALM1; KCNQ1; KCNH2; KCNE1; KCNE2; SCN4B; ANK2; KCNJ2; CAV3; AKAP9; KCNJ5; SNTA1; PRKAG2; LAMP2; CACNA2D1; CACNA1D; TRPM4; LMNA; GJA5; KCNA5; ABCC9; NPPA; DPP6variant; PLN; PKP2; TNNT2; CALM2; CALM3; JPH2; ASPH; SCN2B; SLMAP; SCN10A 607542, 613688, 601005
Gelocaliseerde overgroei - Somatische mutaties MCAP; MPPH; PIK3CA; Proteus syndroom; AKT1; AKT3; MTOR; PIK3R2; PTEN; TSC1; TSC2 612918
UPD14 syndroom MEG3; UPD14 bij afwijkende methylering MEG3; Methylering; UPD
Multi Locus Imprinting Disorder (MLID) Methylerings- en CNV analyse (MLPA ME034); UPD  
Ziekte van Charcot Marie Tooth type 2 (CMT) MFN2; MPZ; GJB1; GDAP1; NEFL; GARS; RAB7A ; HSPB1 ; HSPB8 ; TRPV4; LMNA ; DNM2 ; LRSAM1 118210
Arthrogrypose distaal MYH8; MYH3; TNNI2; MYBPC1; TPM2; TNNT3; PIEZO2; ECEL1 108120
Aritmie

ABCC9; AKAP9; ANK2; ASPH; CACNA1C; CACNA1D; CACNA2D1; CACNB2; CALM1; CALM2; CALM3; CASQ2; CAV3; DPP6 (c.-340C>T NM_001936); GJA5; GPD1L; HCN4; JPH2; KCNA5; KCND3; KCNE1; KCNE2; KCNE3; KCNE5(KCNE1L); KCNH2; KCNJ2; KCNJ5; KCNJ8; KCNQ1; LAMP2; LMNA; NPPA; PKP2; PLN; PRAKG2; RANGSF(MOG1); RYR2; SCN10A; SCN1B; SCN2B; SCN3B; SCN4B; SCN5A; SLMAP; SNTA1; TNNT2; TRDN; TRPM4

11500
Albinisme OCA1; OCA4; OA1; Pgen; P; OCA4; MATP; SLC45A2 AP3B1; BLOC1S3; BLOC1S6; C10orf11; DTNBP1; GPR143; HPS1; HPS3; HPS4;HPS5; HPS6; LYST; MC1R; MITF; MLPH; MYO5A; OCA2; RAB27A; SLC24A5; SLC38A8; SLC45A2; TYR; TYRP1 300500
Bewegingsstoornissen Op aanvraag 300623
Blindheid pakket (254 genen) Op aanvraag blindheid
NGS Dragerschaptest Op aanvraag Preconceptie test
Epilepsie Op aanvraag Epilepsie
Spieraandoeningen Op aanvraag Spieraandoeningen
Properdine deficiëntie PFC 312060
Ziekte van Charcot Marie Tooth type 1 (CMT) PMP22; MPZ ; GJB1; LITAF; EGR2 ; NEFL 118200
Goltz-Gorlin syndroom PORCN 305600
Creutzfeldt Jakob disease PRNP 176640
Serrated Polyposis Syndroom RNF43 617108
Shwachman-Diamond syndroom SBDS 260400
Hypoalfalipoproteinemie: hoog HDL (>3 mmol/l) SCARB1; CETP; LIPC; LIPG 143470
Angioneurotisch oedeem SERPING1; F12 106100, 610618
Riboflavin deficiency SLC52A1; RFT1 615026
Myopathie op statines SLCO1B1 604843
Angelman syndroom SNRPN ; UBE3A; UPD15 105830
Prader-Willi syndroom SNRPN; UPD15 176270
Barth syndroom TAZ 302060
Holt-Oram syndroom (TBX5 + MLPA 311) TBX5 142900
Veneuze malformaties TEK 600195
Schildklierhormoonresistentie THRB 188570
Denys-Drash syndroom WT1 194080
Frasier syndroom WT1 136680
Wilms tumor ( + MLPA P118) WT1 194070
Verminderde gevoeligheid voor schildklierhormoon CRYM; DIO1; DIO2; DIO3; SECISBP2; SLC16A2; SLC16A10; SLC7A7; SLCO1C1; TBG; THRA; THRB 616357, 609698, 300932, 614450
Afwijkend (plasma) transporteiwit ALB; TBG (SERPINA7); TTR 615999, 300932, 145680