Panel za poremećaje koštanog i vezivnog tkiva (416 geni)
Panel za poremećaje koštanog i vezivnog tkiva analizira 416 gena povezanih sa stanjima koja utječu na koštani sustav i vezivna tkiva, što može pomoći u postavljanju dijagnoze i, u nekim slučajevima, omogućiti odgovarajuće personalizirano liječenje bolesti s obzirom na utvrđenu gensku mutaciju.
Geni uključeni u panel poremećaja koštanog i vezivnog tkiva:
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.