Test Menu
Condition
Test Name
Skeletal dysplasia gene panel
Inclusive Genes
ACAN, ACP5, ACVR1, ADAMTS10, ADAMTSL2, AGPS, ALPL, ALX3, ALX4, AMER1, ANKH, ANO5, AP2S1, ARHGAP31, ARSE, ATP6V0A2, ATR, B3GALT6, B4GALT7, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, CA2, CANT1, CASR, CC2D2A, CCDC8, CDC6, CDH3, CDKN1C, CDT1, CENPJ, CEP152, CEP290, CEP63, CHST14, CHST3, CHSY1, CLCN5, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CRTAP, CTSK, CUL7, CYP27B1, CYP2R1, DDR2, DHCR24, DHCR7, DLL3, DLX3, DMP1, DNA2, DVL1, DVL3, DYM, DYNC2H1, EBP, EFNB1, EIF2AK3, ENPP1, EP300, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EZH2, FAM111A, FAM20C, FAM58A, FBLN1, FBN1, FERMT3, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, FREM1, GALNT3, GDF3, GDF5, GDF6, GJA1, GLI3, GNA11, GNAS, GNPAT, GORAB, GPC6, GSC, HDAC4, HES7, HOXA11, HOXD13, HPGD, HSPG2, IARS2, ICK, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT80, IHH, IL11RA, IMPAD1, INPPL1, KIF22, KIF7, LARP7, LBR, LEMD3, P3H1, LFNG, LIFR, LMBR1, LMNA, LMX1B, LRP4, LRP5, MAFB, MATN3, MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MSX2, MTAP, MYCN, NEK1, NFIX, NIN, NIPBL, NKX3-2, NOG, NOTCH2, NPR2, NSDHL, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, PAPSS2, PCNT, PCYT1A, PDE4D, PEX7, PHEX, PIGV, PITX1, PLEKHM1, PLOD2, PLS3, POC1A, POR, PPIB, PRKAR1A, PTDSS1, PTH1R, PTHLH, PTPN11, PYCR1, RAB23, RAB33B, RASGRP2, RBBP8, RECQL4, RMRP, RNU4ATAC, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SBDS, SERPINF1, SERPINH1, SF3B4, SH3PXD2B, SHH, SHOX, SKI, SLC25A12, SLC26A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLC9A3R1, SLCO2A1, SMARCAL1, SNX10, SOST, SOX9, SP7, SPARC, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCTN3, TGFB1, THPO, TMEM216, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, VDR, WDR19, WDR34, WDR35, WDR60, WISP3, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XYLT1, ZMPSTE24, ZSWIM6
Specimen Type
Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/amniotic fluid/ Dried Blood Spots (FTA Cards)/ Product of Conception (POC)