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Skeletal Dysplasia (WES based NGS panel of 531 genes, including CNV analysis, including CNV analysis)
ABCC9, ABL1, ACAN, ACP5, ACTB, ACTG1, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL1, ADAMTSL2, AGA, AGPS, AIFM1, AKT1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARSB, ARSE, ARSL, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATR, B3GALT6, B3GAT3, B4GALT7, B9D1, B9D2, BBOF1, BCS1L, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BRAF, C2CD3, C3orf22, CA2, CANT1, CASR, CBL, CC2D2A, CCDC8, CCN6, CCNQ, CDC45, CDC6, CDH3, CDKN1C, CDT1, CENPE, CENPJ, CEP120, CEP152, CEP290, CEP63, CFAP410, CHRNG, CHST14, CHST3, CHSY1, CKAP2L, CLCN5, CLCN7, COG1, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COLEC11, COMP, COPS3, CPLANE1, CREB3L1, CREBBP, CRTAP, CSGALNACT1, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP26B1, CYP27B1, CYP2R1, DCC, DDR2, DDRGK1, DHCR24, DHCR7, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DMRT2, DNAH10, DNMT3A, DOCK6, DONSON, DPM1, DVL1, DVL3, DYM, DYNC2H1, DYNC2LI1, EBP, EED, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ENAM, ENPP1, EOGT, EP300, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, FAM58A, FAM83H, FANCB, FANCC, FAT4, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FREM1, FUCA1, FUZ, FZD2, GALNS, GALNT3, GDF3, GDF5, GDF6, GH1, GHR, GHRHR, GJA1, GLB1, GLI1, GLI2, GLI3, GMNN, GNAI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC4, GPC6, GPX4, GREM1, GSC, GUSB, GZF1, HDAC4, HDAC6, HDAC8, HES7, HESX1, HGSNAT, HNRNPK, HOXA11, HOXA13, HOXD10, HOXD13, HOXD8, HPGD, HRAS, HSPA9, HSPG2, ICK, IDH1, IDH2, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT57, IFT80, IFT81, IGF1, IGF1R, IGFALS, IHH, IKBKG, IL11RA, IL1RN, IMPAD1, INPPL1, INSR, IRS1, IRX5, JAG1, KAT6B, KIAA0586, KIF14, KIF22, KIF24, KIF7, KMT2A, KRAS, LARP7, LBR, LEMD3, LFNG, LHX3, LHX4, LIFR, LMBR1, LMNA, LMOD3, LMX1B, LONP1, LPIN2, LRP4, LRP5, LTBP2, LTBP3, LZTR1, MAFB, MAN2B1, MAP2K1, MAP2K2, MAP3K7, MAPKAPK5, MASP1, MATN3, MBTPS2, MEGF8, MEOX1, MESP2, MET, MGP, MIR17HG, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MSX2, MTAP, MYCN, MYH3, MYO18B, NAGLU, NANS, NBAS, NEK1, NEU1, NF1, NFIX, NIN, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPHP3, NPPC, NPR2, NRAS, NSD1, NSDHL, NTRK1, NXN, OBSL1, OCRL, OFD1, ORC1, ORC4, ORC6, OSTM1, OTX2, P3H1, P4HB, PAM16, PAN2, PAPSS2, PCNT, PCYT1A, PDE3A, PDE4D, PEX14, PEX19, PEX5, PEX7, PGM3, PHEX, PHF21A, PHGDH, PIGT, PIGV, PIK3CA, PIK3R1, PITX1, PITX2, PJA1, PLCB3, PLCB4, PLEKHM1, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, POR, POU1F1, PPIB, PRKAR1A, PRKG2, PRMT7, PROP1, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAC3, RAD21, RAF1, RASA2, RASGRP2, RBBP8, RBM8A, RBPJ, RECQL4, RFT1, RIN1, RIPPLY2, RIT1, RMRP, RNU4ATAC, ROR2, RPGRIP1L, RRAS, RSPRY1, RTTN, RUNX2, SALL1, SALL4, SBDS, SCARF2, SEC23A, SEC24D, SERPINF1, SERPINH1, SETBP1, SETD2, SF3B4, SFRP4, SGSH, SH3BP2, SH3PXD2B, SHH, SHOC2, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLC9A3R1, SLCO2A1, SLCO5A1, SMAD3, SMAD4, SMAD6, SMARCAL1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOS1, SOST, SOX2, SOX3, SOX9, SP7, SPARC, SRCAP, STAMBP, STAT5B, SULF1, SUMF1, TAB2, TALDO1, TAPT1, TBCE, TBX15, TBX19, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTEX1D2, TCTN2, TCTN3, TENT5A, TERT, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMCO1, TMEM107, TMEM165, TMEM185A, TMEM216, TMEM231, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIM37, TRIP11, TRPS1, TRPV4, TRPV6, TTC21B, TWIST1, TWIST2, TXNL4A, TYROBP, VDR, VIPAS39, WASHC5, WDR19, WDR34, WDR35, WDR60, WNT1, WNT10B, WNT3, WNT3A, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, YY1, ZFHX2, ZIC1, ZMPSTE24, ZNF141, ZSWIM6
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Methodology

NGS


Specimen Requirements


Descriptive Volume /
Concentration 1
Container Transport
temperature
Sample
viability (days) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
1 When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2 Maximum shipping time to ensure sample quality

Turnaround Time (Days)

- 60

Specialties

- Rare diseases, Obstetrics / Gynecology /PND, Pediatrics


CGC Reference

- 5592




Associated Tests


Skeletal Dysplasia (WES based NGS panel of 530 genes, including CNV analysis, including CNV analysis)
Clefting (WES based NGS panel of 231 genes, including CNV analysis)
Movement diseases (WES based NGS panel of 905 genes, including CNV analysis)
Movement diseases (WES based NGS panel of 929 genes, including CNV analysis)
Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis)