Ziektebeelden
Skeletdysplasie
Materiaal
Hoeveelheid
Afnamerecipient
Acceptatie criteria
Duidelijke vraagstelling en indicatie.
Ingevuld en ondertekend toestemmingsformulier (zie Tab 'Toestemmingsformulieren').
Resultaattermijn
6 mnd
Methode
WES gevolgd door filtering op genenpanel voor skelet dysplasie (WESSD) ism UMC Radboud (datageneratie).
Samenstelling genenpanel zie ook WESSDv1.pdf
Accreditering
Uitvoerende afdeling
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, 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