İskelet Displazileri ve Hastalıkları Gen Paneli

2-8 °C de 3 gün

ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AFF4, AGA, AGPS, AIFM1, AKT1, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARCN1, ARHGAP31, ARID1B, ARSB, ARSE, ARSL, ASCC1, ASPM, ATP6V0A2, ATR, ATRIP, B3GALT6, B3GAT3, B4GALT7, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2, C21ORF2, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC8, CCN6, CDC45, CDC6, CDH3, CDK5RAP2, CDKN1C, CDT1, CENPE, CENPJ, CEP120, CEP135, CEP152, CEP290, CEP63, CEP97, CFAP410, CHST11, CHST14, CHST3, CHSY1, CHUK, CKAP2L, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CREBBP, CRIPT, CRLF1, CRTAP, CSF1R, CSGALNACT1, CSPP1, CTNS, CTSA, CTSK, CUL7, CWC27, CYP27B1, CYP2R1, DDR2, DDRGK1, DDX58, DHCR24, DHODH, DIP2C, DLL1, DLL3, DLL4, DLX3, DLX5, DMP1, DMRT2, DNA2, DNAJC21, DNMT3A, DOCK6, DONSON, DSE, DVL1, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, EBP, EDN1, EDNRA, EFL1, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ENAM, ENPP1, EOGT, EP300, ERF, ESCO2, EVC, EVC2, EXOC6B, EXOSC2, EXT1, EXT2, EXTL3, EZH2, FAH, FAM111A, FAM20A, FAM20C, FAM46A, FAM83H, FANCB, FANCC, FAR1, FAT4, FBN1, FBN2, FERMT3, FGF10, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FN1, FTO, FUCA1, FZD2, GALNS, GALNT3, GCM2, GDF3, GDF5, GDF6, GHR, GHRHR, GHSR, GJA1, GLB1, GLI3, GMNN, GNAI3, GNAS, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GSC, GUSB, GZF1, HAAO, HDAC4, HDAC8, HES7, HGSNAT, HOXA11, HOXA13, HOXD13, HPGD, HRAS, HSPA9, HSPG2, HYAL1, IARS2, ICK, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, IGF1, IGF2, IHH, IL1RN, IMPAD1, INPPL1, INTU, JAG1, KAT6B, KCNJ2, KIAA0586, KIAA0753, KIF22, KIF7, KL, KMT2A, KYNU, LBR, LEMD3, LFNG, LIFR, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRK1, LTBP2, LTBP3, MAFB, MAN2B1, MANBA, MAP2K1, MAP3K7, MATN3, MBTPS1, MBTPS2, MCPH1, MECOM, MEGF8, MEOX1, MESDC2, MESP2, MET, MGP, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MSX2, MYCN, MYH3, MYO18B, NAGLU, NANS, NBAS, NEK1, NEU1, NF1, NFIX, NIN, NIPBL, NKX3-2, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NSD1, NSDHL, NSMCE2, NTRK1, NXN, OBSL1, OCRL, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PAX3, PCGF2, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PIGV, PIK3C2A, PIK3CA, PISD, PITX1, PKDCC, PLCB4, PLEKHM1, PLOD1, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POLR3A, POLR3B, POP1, POR, PPIB, PPP3CA, PRKAR1A, PTDSS1, PTEN, PTH1R, PTHLH, PTPN11, PYCR1, RAB23, RAB33B, RAD21, RBBP8, RBM8A, RBPJ, RECQL4, RIPPLY2, RMRP, RNU4ATAC, ROR2, RPGRIP1L, RSPO2, RSPRY1, RUNX2, SALL1, SALL4, SBDS, SC5D, SEC24D, SERPINF1, SERPINH1, SETBP1, SETD2, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SNRPB, SNX10, SOST, SOX9, SP7, SPARC, SQSTM1, SRP54, STAMBP, SUCO, SUMF1, TAB2, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTEX1D2, TCTN3, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMEM165, TMEM216, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TONSL, TP63, TRAF3IP1, TRAPPC2, TREM2, TRIM37, TRIP11, TRIP4, TRMT10A, TRPS1, TRPV4, TRPV6, TTC21B, TUBGCP4, TUBGCP6, TWIST1, TYROBP, UFSP2, VAC14, VDR, VIPAS39, VPS33A, WDR19, WDR34, WDR35, WDR4, WDR60, WISP3, WNT1, WNT10B, WNT3, WNT3A, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, ZMPSTE24, ZNF687, ZRS, ZSWIM6 (491 gen)

Achondroplasia, Campomelic dysplasia, Collagenopathies (e.g., COL2A1-related dysplasias), FGFR3 chondrodysplasia, Metaphyseal dysplasias, Multiple epiphyseal dysplasia, Osteogenesis imperfecta, Pseudoachondroplasia, Spondyloepimetaphyseal dysplasias, Spondylometaphyseal dysplasia, Severe spondylodysplastic dysplasias, Dysplasias with multiple joint dislocations, Joint formation disorders, Asphyxiating thoracic dysplasia, Ellis-van Creveld syndrome, Short rib-polydactyly syndromes, Chondrodysplasia punctata, Rhizomelic chondrodysplasia punctata, Acromesomelic dysplasia, Acromelic dysplasias, Mesomelic and rhizo-mesomelic dysplasia, Neonatal osteosclerotic dysplasias, Osteopetrosis, Osteolysis, Hypophosphatasia, Slender bone dysplasias, Overgrowth syndromes with skeletal involvement, Primordial dwarfism, Craniosynostosis syndromes, Dysostoses, Brachydactylies, Limb hypoplasia-reduction defects, Ectrodactyly, Polydactyly-syndactyly-triphalangism, Diastrophic dysplasia, Lysosomal storage disorders with skeletal involvement, Ciliopathies with skeletal involvement, Thanatophoric dysplasia, Hypochondroplasia, Jeune syndrome, Schmid metaphyseal dysplasia, Melnick-Needles syndrome, Cleidocranial dysplasia, Enchondromatosis, Bruck syndrome, TRPV4-related skeletal dysplasias, CDPX1, Sclerosing bone dysplasias, Marshall syndrome, Stickler syndrome, Taybi-Linder syndrome.