Skeletal and connective tissue disorders panel (416 genes)
The Skeletal and Connective Tissue Disorders Panel analyzes 416 genes associated with conditions affecting the skeletal system and connective tissues that can help establish a diagnosis and, in some cases, allow for appropriate management and surveillance for disease features based on the gene involved.
Genes included in the Skeletal and Connective Tissue Disorders Panel:
ABCC6, ABL1, ACAN, ACP5, ACTA2, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, AEBP1, AFF4, AGA, AGPS, AIFM1, ALDH18A1, ALPL, AMER1, ANKH, ANO5, ARCN1, ARIH1, ARSB, ARSE, ASCC1, ASPM, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATR, ATRIP, B3GALT6, B3GAT3, B4GALT7, BGN, BMP1, BMP2, BMPER, BMPR1B, C1S, C2CD3, CA2, CANT1, CASR, CBS, CCDC8, CDC45, CDC6, CDK5RAP2, CDKN1C, CDT1, CENPJ, CEP120, CEP135, CEP152, CEP63, CEP97, CFAP410, CHST14, CHST3, CHUK, CLCN5, CLCN7, COG1, COG7, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL27A1, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CRIPT, CRTAP, CSF1R, CSGALNACT1, CSPP1, CTNS, CTSA, CTSK, CUL7, CWC27, CYP27B1, CYP2R1, DCHS1, DDR2, DDRGK1, DHCR24, DIP2C, DLL1, DLL3, DLX3, DMP1, DMRT2, DNA2, DNMT3A, DONSON, DSE, DVL1, DVL3, DYM, DYNC2H1, DYNC2LI1, EBP, EFEMP2, EIF2AK3, ELN, ENPP1, ESCO2, EVC, EVC2, EXOC6B, EXOSC2, EXT1, EXT2, EXTL3, FAH, FAM111A, FAM20C, FAM46A, FAR1, FAT4, FBLN5, FBN1, FBN2, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLCN, FLNA, FLNB, FN1, FOXE3, FTO, FUCA1, FZD2, GALNS, GALNT3, GDF5, GDF6, GGCX, GHR, GHRHR, GHSR, GJA1, GLB1, GMNN, GNAS, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GSC, GUSB, GZF1, HCN4, HES7, HGSNAT, HPGD, HSPG2, HYAL1, IARS2, ICK, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, IGF1, IGF2, IHH, IMPAD1, INPPL1, INTU, JAG1, KAT6B, KIAA0586, KIAA0753, KIF22, KL, KMT2A, LARP7, LBR, LEMD3, LFNG, LIFR, LIG4, LMNA, LMX1B, LONP1, LOX, LOXL3, LRP4, LRP5, LRRK1, LTBP2, LTBP3, LTBP4, LZTS1, MAFB, MAN2B1, MANBA, MAP3K7, MAT2A, MATN3, MBTPS1, MBTPS2, MCM5, MCPH1, MED12, MEOX1, MESDC2, MESP2, MFAP5, MGP, MMP13, MMP14, MMP2, MMP9, MNX1, MSX2, MYH11, MYH3, MYLK, MYO18B, NAGLU, NANS, NBAS, NEK1, NEU1, NIN, NKX3-2, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NSDHL, NSMCE2, NTRK1, NXN, OBSL1, OCRL, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PCGF2, PCNT, PCYT1A, PDE4D, PEX5, PEX7, PGM3, PHEX, PIK3C2A, PISD, PKD2, PKDCC, PLK4, PLOD1, PLOD2, PLOD3, PLS3, POC1A, POLR1A, POP1, POR, PPIB, PPP3CA, PRDM5, PRKAR1A, PRKG1, PTDSS1, PTH1R, PTHLH, PTPN11, PYCR1, RAB33B, RBBP8, RECQL4, RIN2, RIPPLY2, RMRP, RNU4ATAC, ROR2, RSPO2, RSPRY1, RTTN, RUNX2, SC5D, SEC24D, SERPINF1, SERPINH1, SETBP1, SFRP4, SGMS2, SGSH, SH3PXD2B, SKI, SLC17A5, SLC26A2, SLC29A3, SLC2A10, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCAL1, SNRPB, SNX10, SOX9, SP7, SPARC, SQSTM1, SRCAP, SUCO, SULF1, SUMF1, TAB2, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX5, TBX6, TBXAS1, TCIRG1, TCTEX1D2, TCTN3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM165, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TONSL, TRAF3IP1, TRAIP, TRAPPC2, TREM2, TRIM37, TRIP11, TRIP4, TRMT10A, TRPS1, TRPV4, TTC21B, TUBGCP4, TUBGCP6, TYROBP, UBE3B, UPF3B, VAC14, VDR, VPS33A, WDR19, WDR34, WDR35, WDR4, WDR60, WISP3, WNT1, WNT3, WNT3A, WNT5A, XRCC4, XYLT1, XYLT2, ZMPSTE24, ZNF469, ZNF687.
