Whole exome sequencing (WES) ikv skeletdysplasie
Ziektebeelden:

​Skeletdysplasie

Materiaal:
bloed
Hoeveelheid:

​2 x 5 ml

Afnamerecipiënt:
EDTA-tube
Acceptatiecriteria:

​Duidelijke vraagstelling en indicatie

Resultaattermijn:

​6 mnd

Methode:

​WES gevolgd door filtering op genenpanel voor skelet dysplasie ism UMC Radboud (datageneratie).
Samenstelling genenpanel zie ook WESSD_v1.pdfWESSD_v1.pdf

Accreditering:
Nee
Uitvoerende afdeling:
Moleculaire diagnostiek
Aanvullende informatie:

​Samenstelling genenpanel skeletal dysplasia (WESSD_v1):

ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS, AKT1, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANO5, ANTXR2, ARHGAP31, ARSB, ARSE, ATP6V0A2, B3GALT6, B4GALT7, BMP1, BMP2, BMPER, BMPR1B, CA2, CANT1, CASR, CC2D2A, CCDC8, CCNQ, CDC6, CDH3, CDKN1C, CDT1, CEP290, CHST14, CHST3, CHSY1, CLCN5, CLCN7, COG1, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CREBBP, CRTAP, CTSA, CTSK, CUL7, DDR2, DDX58, DHCR24, DHODH, DLL3, DLX3, DMP1, DOCK6, DVL1, DYM, DYNC2H1, EBP, EFNB1, EFTUD2, EIF2AK3, ENPP1, EOGT, EP300, ERF, ESCO2, EVC1, EVC2, EXT1, EXT2, EZH2, FAM111A, FAM20C, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGF10, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FMN1, FUCA1, FZD2, GALNS, GALNT3, GDF3, GDF5, GDF6, GFER, GJA1, GLB1, GLI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GREM1, GUSB, HDAC4, HDAC8, HES7, HGSNAT, HOXA11, HOXA13, HOXD13, HPGD, HSPG2, ICK, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT80, IHH, IKBKG, IL1RN, IMPAD1, INPPL1, KAT6B, KIF22, LBR, LEMD3, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LTBP2, MAFB, MAN2B1, MAN2C1, MATN3, MBTPS2, MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MNX1, MSX2, MYCN, NAGLU, NBAS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH2, NPPC, NPR2, NSD1, NSDHL, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PCNT, PCYT1A, PDE3A, PDE4D, PEX7, PHEX, PIGV, PIK3CA, PITX1, PLEKHM1, PLOD2, PLS3, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PTDSS1, PTH1R, PTHLH, PTPN11, PYCR1, RAB23, RAB33B, RAD21, RASGRP2, RBM8A, RBPJ, RECQL4, RMRP, RNU4ATAC, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SBDS, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SKI, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO5A1, SMAD3, SMAD4, SMARCAL1, SMC1A, SMC3, SNX10, SOST, SOX9, SP7, SULF1, SUMF1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN3, TGFB1, TGFB2, TGFBR1, TGFBR2, THPO, TMEM216, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, WDR19, WDR34, WDR35, WISP3, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XYLT1, XYLT2, ZMPSTE24