Ziektebeelden

​Skeletdysplasie
Craniosynostosis
Osteogenesis imperfecta
SADDAN dysplasie
Collagenopatieën
Hypochondroplasie

Materiaal

bloed

Hoeveelheid

​2 x 5 ml EDTA bloed of min. 3 µg DNA in een volume van min. 30 µl

Afnamerecipiënt

EDTA-tube

Acceptatie criteria

​Duidelijke vraagstelling en indicatie + WES-toestemmingsformulier

 

Resultaattermijn

​6 mnd

Methode

Whole exome sequencing (WES) gevolgd door filtering op genenpanel voor skelet dysplasie (WESSD) ism UMC Radboud (sequenering) 
 

Accreditering

Ja – UZA-CMG is voor deze analyse ISO 15189:2012 geaccrediteerd door BELAC onder certificaatnummer 419-MED

Aanvullende informatie

​Samenstelling genenpanel skeletal dysplasia (WESSD_v3):

ABCC9, ABL1, ACAN, ACP5, ACTB, ACTG1, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AFF3, AGA, AGPS, AIFM1, AKT1, AKT2, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANAPC1, ANKH, ANKRD11, ANO5, ANTXR2, APC2, ARCN1, ARHGAP25, ARHGAP31, ARID1A, ARID1B, ARL6, ARSB, ARSK, ARSL, ASAH1, ASXL1, ATP6V0A2, ATP7A, ATR, B3GALT6, B3GAT3, B4GALT7, B9D2, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BNIP1, BPNT2, C2CD3, CA2, CANT1, CASR, CBFB, CC2D2A, CCDC134, CCDC8, CCN6, CCNQ, CDC45, CDC6, CDC73, CDH3, CDK10, CDKN1C, CDT1, CENPE, CEP120, CEP152, CEP290, CFAP410, CHST11, CHST14, CHST3, CHSY1, CILK1, CKAP2L, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, COPB2, CPLANE1, CREB3L1, CREBBP, CRIPT, CRTAP, CSF1R, CSGALNACT1, CSPP1, CTSA, CTSK, CUL7, CYP26B1, CYP27B1, CYP2R1, CYP3A4, DDR2, DDRGK1, DDX58, DHCR24, DHODH, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DNA2, DNAJC21, DNMT3A, DOCK6, DONSON, DPAGT1, DPM1, DSE, DSPP, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, EBP, EDN1, EDNRA, EED, EFL1, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ELMO2, EN1, ENPP1, EOGT, EP300, EPS15L1, ERF, ESCO2, EVC, EVC2, EXOC6B, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20B, FAM20C, FANCB, FAR1, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FOSL2, FOXC1, FUCA1, FUZ, FZD2, GALNS, GALNT3, GBA1, GCM2, GDF3, GDF5, GDF6, GINS2, GJA1, GLB1, GLI2, GLI3, GMNN, GNAI3, GNAS, GNPAT, GNPNAT1, GNPTAB, GNPTG, GNS, GORAB, GPC3, GPC4, GPC6, GPX4, GREM1, GSC, GUSB, GZF1, HAAO, HDAC4, HDAC8, HES7, HGSNAT, HHAT, HNRNPK, HOXA11, HOXA13, HOXD13, HPGD, HRAS, HS2ST1, HSPA9, HSPG2, HYAL1, IARS2, ID4, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IHH, IKBKG, IL11RA, IL1RN, IL6ST, INPPL1, INTU, KAT6B, KCNJ2, KDELR2, KIAA0586, KIAA0753, KIAA0825, KIF22, KIF5B, KIF7, KL, KYNU, LAMA5, LBR, LEMD3, LFNG, LIFR, LMBR1, LMNA, LMOD3, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRK1, LTBP1, LTBP2, LTBP3, MAB21L2, MAFB, MAN2B1, MANBA, MAP2K1, MAP3K20, MAP3K7, MAPKAPK5, MASP1, MATN3, MBTPS1, MBTPS2, MCM3, MCM5, MCM7, MECOM, MEGF8, MEOX1, MESD, MESP2, MET, MGP, MID1, MIR140, MIR17HG, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MSX2, MTAP, MTX2, MYCN, MYH3, MYO18B, NADSYN1, NAGLU, NANS, NBAS, NEK1, NEPRO, NEU1, NF1, NFIX, NIPBL, NKX3-2,  NLRP3, NMNAT1, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NRAS, NSD1, NSDHL, NSMCE2, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PAX3, PCNT, PCYT1A, PDE3A, PDE4D, PDGFRB, PEX5, PEX7, PGM3, PHEX, PHGDH, PIGV, PIK3C2A, PIK3CA, PISD, PITX1, PKDCC, PLCB3, PLCB4, PLEKHM1, PLOD1, PLOD2, PLS3, POC1A, POLE, POLR1A, POLR1B, POLR1C, POLR1D, POLR3A, POLR3B, POLR3GL, POP1, POR, PORCN, PPIB, PRKACA, PRKACB, PRKAR1A, PRKG2, PRMT7, PRRX1, PTDSS1, PTH1R, PTHLH, PTPN11, PYCR1, RAB23, RAB33B, RAD21, RASGRP2, RBBP8, RBM8A, RBPJ, RECQL4, RFLNA, RINT1, RIPPLY2, RMRP, RNU4ATAC, ROR2, RPGRIP1L, RPL13, RSPO2, RSPRY1, RUNX2, SALL1, SALL4, SBDS, SCUBE3, SDCCAG8, SEC23A, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SIX1, SIX2, SKI, SLC10A7, SLC17A5, SLC25A24, SLC26A2, SLC29A3, SLC34A3, SLC35B2, SLC35D1, SLC39A13, SLC4A2, SLCO2A1, SLCO5A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMCHD1, SMO, SMOC1, SMS, SNRPB, SNX10, SOST, SOX9, SP7, SPARC, SPECC1L, SQSTM1, SRP54, SULF1, SUMF1, SUZ12, TAB2, TAPT1, TBC1D24, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TENT5A, TFAP2B, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM251, TMEM38B, TMEM53, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TONSL, TOP2B, TP63, TRAF3IP1, TRAF7, TRAIP, TRAPPC2, TREM2, TRIM32, TRIP11, TRPS1, TRPV4, TRPV6, TTC21B, TTC8, TWIST1, TYROBP, UBA2, UFSP2, VAC14, VCP, VDR, VPS33A, WDPCP, WDR19, WDR35, WNT1, WNT10B, WNT3, WNT5A, WNT6, WNT7A, XRCC4, XYLT1, XYLT2, ZIC1, ZIC3, ZMPSTE24, ZNF462, ZSWIM6