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Bone diseases / dental diseases and malformations

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ABNORMAL MINERALIZATION: 123 genes – Delivery time: 3-4 weeks

ABCB6, ABCC6, ALPL, AMER1, ANKH, ANO5, AP2S1, ASCC1, ATP6V0A4, B3GAT3, B4GALT7, BAAT, BMP1, BSND, CA2, CACNA1S, CASR, CDC73, CDKN1C, CLCN5, CLCN7, CLCNKB, CLDN16, CLDN19, CNNM2, COL1A1, COL1A2, CREB3L1, CRTAP, CTNS, CTSK, CYP24A1, CYP27B1, CYP2R1, DMP1, DSPP, EGF, EGFR, ENPP1, EPHX1, FAH, FAM20C, FERMT3, FGF23, FGFR1, FGFR3, FKBP10, FXYD2, GALNT3, GJA1, GNA11, GNAS, GORAB, HAMP, HFE, HNF1B, HNF4A, HPGD, HRAS, IFITM5, KCNA1, KCNJ10, KCNJ2, KL, KRAS, LEMD3, LRP4, LRP5, MBTPS2, MEN1, MESD, MTAP, NBAS, NOTCH2, NRAS, OCRL, OSTM1, P3H1, PCBD1, PHEX, PLEKHM1, PLOD2, PLS3, PPIB, PTDSS1, PTH1R, REN, SARS2, SCN4A, SEC24D, SERPINF1, SERPINH1, SH3PXD2B, SLC12A3, SLC26A2, SLC29A3, SLC34A1, SLC34A3, SLC40A1, SLC4A1, SLC9A3R1, SLCO2A1, SNX10, SOST, SOX9, SP7, SQSTM1, TBXAS1, TCIRG1, TFR2, TGFB1, TJP2, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TRPM6, TYROBP, UMOD, VDR, WNT1, XYLT2, ZBTB20

ADAMS-OLIVER SYNDROME: 14 genes – Delivery time: 3-4 weeks

ARHGAP31, DLL4, DOCK6, DSP, EOGT, ITGA6, ITGB4, KCTD1, KRAS, KRT5, MYH9, NOTCH1, RBPJ, UBR1

AMELOGENESIS/DENTINOGENESIS IMPERFECTA: 38 genes – Delivery time: 3-4 weeks

AMBN, AMELX, BMP1, CNNM4, COL17A1, COL1A1, COL1A2, CRTAP, DLX3, DSPP, ENAM, FAM20A, FAM83H, FKBP10, GPR68, IFITM5, ITGB6, KLK4, LAMA3, LAMB3, LTBP3, MMP20, ODAPH, ORAI1, P3H1, PEX1, PEX6, PPIB, ROGDI, SERPINF1, SERPINH1, SLC13A5, SLC24A4, SMOC2, SP7, STIM1, WDR72, WNT10B

ASPHYXING THORACIC DYSTROPHY/SHORT RIB DYSPLASIA: 24 genes – Delivery time: 3-4 weeks

CEP120, CSPP1, DYNC2H1, EVC, EVC2, FGFR2, FGFR3, GLI2, IFT122, IFT140, IFT172, IFT43, IFT80, INTU, NEK1, PAPSS2, SLC26A2, SOX9, TCTN3, TTC21B, WDR19, WDR34, WDR35, WDR60

BRACHYDACTYLY: 20 genes – Delivery time: 3-4 weeks

BMP2, BMPR1B, CHSY1, ESCO2, GDF5, GNAS, HDAC4, HOXA13, HOXD13, IHH, MGP, NOG, PITX1, PTHLH, RECQL4, ROR2, SOX9, TBX15, TP63, WNT7A

CHONDRODYSPLASIA PUNCTATA: 13 genes – Delivery time: 3-4 weeks

AGPS, ARSE, EBP, FAR1, GGCX, GNPAT, LBR, MGP, NSDHL, PEX14, PEX19, PEX5, PEX7

CLEFT PALATE (CLEFT PALATE)/CLEFT LIP AND ASSOCIATED SYNDROMES: 152 genes – Delivery time: 3-4 weeks

ABCA12, ACACB, ACBD5, ACTC1, ADH7, AHDC1, ALX1, AMELX, ANOS1, ARHGAP29, BMP2, BMP4, CBFB, CDH1, CDH19, CDKN1C, CDON, CFAP57, CHD7, CHRNA7, CLPTM1, CLPTM1L, COG5, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COLEC11, CTNND1, DAB1, DEAF1, DHCR7, DHODH, DLG1, DUSP22, EFTUD2, ESCO2, EVC2, EYA1, FAM20C, FBLN1, FGD1, FGF10, FGF8, FGFR1, FGFR2, FGFR3, FLNA, FOXE1, FOXF2, FRAS1, FREM2, FZD6, GJA1, GLI2, GLI3, GPC6, GREM1, GRHL3, IFT88, IGF1R, INPPL1, IRF6, JAG2, KDM6A, KMT2D, LHX8, MAFB, MASP1, MEIS2, MIB1, MID1, MN1, MSX1, MSX2, MYH3, NBAS, NECTIN1, NEDD4L, NOTCH2, NUDT6, PAX3, PAX7, PAX9, PDGFC, PDGFRA, PGM1, PHF8, PHYH, PIBF1, PIGA, POLR1C, POLR1D, PORCN, PREPL, PRICKLE1, PTCH1, PTHLH, RIMS3, RIPK4, ROBO2, RPGRIP1L, RYK, RYR1, SALL1, SATB2, SEMA3E, SF3B4, SHH, SIX1, SIX3, SIX5, SKI, SMAD2, SMAD3, SMC1A, SNAP29, SNTG1, SOX9, SP8, SPECC1L, SPRY2, SPRY4, SUMO1, TBX1, TBX10, TBX2, TBX22, TCOF1, TFAP2A, TGDS, TGFB1, TGFB3, TGFBR1, TGFBR2, TGIF1, TP63, TXNL4A, TXNRD2, UFD1, UGT1A9, VAX1, WDR11, WDR35, WNT5A, WNT7A, WT1, YWHAE, ZBTB24, ZSWIM6

CRANIOSYNOSTOSIS: 100 genes – Delivery time: 3-4 weeks

ABCC9, ADAMTSL4, ALPL, ALX1, ALX3, ALX4, ASXL1, ATR, B3GAT3, BMP4, CCBE1, CD96, CDT1, CEP120, CHST3, COLEC11, CTSK, CYP26B1, EDNRB, EFNB1, ERF, ESCO2, FAM20C, FBN1, FGF3, FGF9, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FREM1, GDF5, GLI3, GNAS, GNPTAB, GPC3, HUWE1, IDS, IDUA, IFT122, IFT140, IFT43, IGF1R, IHH, IL11RA, IMPAD1, IRX5, JAG1, KAT6A, KAT6B, KMT2D, KRAS, LMX1B, LRP5, MASP1, MEGF8, MSX2, NFIA, NOG, ORC1, ORC4, ORC6, OSTM1, PAX3, PHEX, POR, PPP3CA, PRRX1, RAB23, RECQL4, RUNX2, SCARF2, SEC24D, SH3PXD2B, SIX1, SIX2, SKI, SMAD2, SMAD3, SMAD6, SMO, SOX10, SOX6, SOX9, SPECC1L, STAT3, TCF12, TCOF1, TGFB2, TGFB3, TGFBR1, TGFBR2, TMCO1, TWIST1, TWIST2, WDR19, WDR35, ZEB2, ZIC1

DENTAL AGENESIA/OLIGODONTIA: 43 genes – Delivery time: 3-4 weeks

ANKRD11, ATP6V1B2, AXIN2, BCOR, CCBE1, CDH1, CEP152, CLDN1, DSP, DSPP, DVL1, EDA, EDAR, EDARADD, EVC2, FGFR1, FLNA, HUWE1, IRF6, KCNJ2, KIF1BP, LRP6, LTBP3, MESD, MSX1, PAX9, POLR3A, POLR3B, PORCN, PPP1R15B, PTH1R, PTHLH, ROR2, RUNX2, SATB2, SH3BP2, SMOC2, SUMO1, TP63, UBR1, WNT10A, WNT10B, ZSWIM6

FACIAL DYSOSTOSIS: 38 genes – Delivery time: 3-4 weeks

ALPL, ALX1, ALX3, ALX4, CHD7, CREBBP, DHODH, DLL3, EFNB1, EFTUD2, EHMT1, EP300, EVC, EVC2, FGFR1, FGFR2, FGFR3, GHR, HDAC8, HSPG2, LIFR, MYCN, NIPBL, PDE4D, POLR1C, POLR1D, PRKAR1A, RAD21, SF3B4, SMC1A, SMC3, SOX9, SRCAP, TCF12, TCOF1, TWIST1, UBE2A, ZSWIM6

GLOBAL DYSMORPHIC SYNDROMES: 687 genes – Delivery time: 3-4 weeks

ABCA12, ABCB6, ABCC6, ABL1, ACP5, ACTA1, ACTA2, ACTB, ACTG1, ACVR2B, ADAMTS18, ADAMTS2, ADAMTSL2, ADGRG1, AEBP1, AFF4, AGPS, AGRN, AHDC1, AHI1, AKR1C4, AKT3, ALDH18A1, ALDH1A3, ALG2, ALPL, ALX1, ALX4, AMELX, AMER1, AMH, AMHR2, AMPD2, ANKH, ANKLE2, ANKRD11, ANKS6, ANO5, ANOS1, AP4M1, ARFGEF2, ARHGAP29, ARHGAP31, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARL6, ARX, ASPM, ASXL1, ASXL3, ATP6V0A2, ATP6V0A4, ATP7A, ATR, ATRX, B3GALNT2, B3GAT3, B3GLCT, B4GALT7, B4GAT1, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCL11A, BCOR, BGN, BIN1, BMP1, BMP2, BMP4, BMPR1B, BNC2, BRAF, C1R, C1S, CANT1, CASK, CASR, CBL, CBS, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CCDC65, CCM2, CCNO, CDH1, CDK5RAP2, CDKN1C, CDON, CENPJ, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CFAP298, CFAP53, CFL2, CHAT, CHD4, CHD7, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHSY1, CLCN5, CLP1, CNTNAP1, COASY, COG5, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COLEC11, COLQ, COMP, COX7B, CPLANE1, CRB2, CREB3L1, CREBBP, CRELD1, CRIPT, CRTAP, CSGALNACT1, CSPP1, CTNNA2, CTNND1, CUL4B, CUL7, CYB5A, CYP19A1, CYP1B1, CYP26B1, DAG1, DCC, DCHS1, DCX, DDR2, DDX59, DEAF1, DHCR24, DHCR7, DHODH, DLL3, DLL4, DMP1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNM2, DOCK6, DOK7, DPAGT1, DRC1, DSE, DYM, DYNC1H1, DYNC2H1, DYRK1A, EBP, ECEL1, EDN3, EDNRB, EFEMP2, EFNB1, EFTUD2, EGR2, EIF2AK3, EIF2S3, ELN, ENPP1, EOGT, EPG5, ERCC1, ERCC2, ERCC5, ERCC6, ERF, ESCO2, EVC, EVC2, EXOSC3, EXT1, EXT2, EYA1, FAM20C, FAS, FAT4, FBLN1, FBLN5, FBN1, FBN2, FBXL4, FBXW11, FGD1, FGF10, FGF23, FGF8, FGFR1, FGFR2, FGFR3, FHL1, FKBP10, FKBP14, FKRP, FKTN, FLCN, FLNA, FLNB, FOXC1, FOXE1, FOXL2, FRAS1, FREM1, FREM2, FZD6, GATA4, GBA, GBE1, GDF1, GDF3, GDF5, GDF6, GDNF, GFPT1, GGCX, GJA1, GLE1, GLI2, GLI3, GMPPB, GNAS, GNPAT, GORAB, GPC3, GPC6, GRHL3, GRIP1, HBA1, HCCS, HDAC8, HES7, HESX1, HEXA, HMX1, HOXA13, HOXD13, HRAS, HSPG2, HUWE1, HYDIN, HYLS1, IER3IP1, IFITM5, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IGF1R, IHH, IL11RA, INPP5E, INPPL1, INVS, IRF6, ITGB4, JAG1, KAT6B, KATNB1, KBTBD13, KDM5C, KDM6A, KIF11, KIF14, KIF22, KIF2A, KIF5C, KIF7, KIT, KLHL40, KLHL41, KMT2A, KMT2D, KNL1, KRAS, KRIT1, L1CAM, LAMA2, LAMA3, LAMB1, LAMB3, LAMC2, LARGE1, LBR, LFNG, LIFR, LMNA, LMOD3, LMX1B, LOX, LRP2, LRP4, LRP5, LTBP3, LZTFL1, LZTR1, MAB21L2, MACF1, MAFB, MAGEL2, MAP2K1, MAP2K2, MASP1, MATN3, MBTPS2, MCPH1, MED12, MED13L, MED17, MEGF8, MEIS2, MEOX1, MESP2, MFAP5, MFRP, MFSD2A, MGP, MID1, MITF, MKKS, MKS1, MMP13, MMP9, MN1, MSMO1, MSX1, MSX2, MTM1, MUSK, MYBPC1, MYCN, MYH11, MYH2, MYH3, MYH8, MYLK, MYO18B, MYO7A, NAA10, NALCN, NBAS, NDE1, NDP, NEB, NECTIN1, NEK1, NEK8, NF1, NF2, NHEJ1, NIPBL, NKX2-5, NKX3-2, NME8, NODAL, NOG, NOTCH1, NOTCH2, NPHP1, NPHP3, NPR2, NR2F2, NRAS, NRG1, NSD1, NSDHL, NSUN2, NT5E, OBSL1, OCRL, OFD1, OPHN1, ORC1, OTX2, P3H1, PAFAH1B1, PAPSS2, PAX2, PAX3, PAX6, PAX7, PAX9, PCNT, PDCD10, PDE4D, PDE6D, PEX7, PGM1, PHEX, PHF6, PHF8, PHYH, PIBF1, PIEZO2, PIGA, PIGV, PIP5K1C, PITX2, PKD1L1, PKD2, PKHD1, PLK4, PLOD1, PLOD2, PLP1, PMM2, PNKP, PNPLA6, POLA1, POLR1C, POLR1D, POMC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PORCN, PPARG, PPIB, PQBP1, PRDM5, PREPL, PRKAR1A, PRKG1, PRPH2, PRSS56, PTCH1, PTH1R, PTHLH, PTPN11, PXDN, PYCR1, PYCR2, RAB18, RAB23, RAB3GAP1, RAB3GAP2, RAD21, RAF1, RAPSN, RARB, RARS2, RASA1, RASA2, RAX, RBBP8, RBP4, RBPJ, RELN, RET, RHO, RIN2, RIPK4, RIT1, ROBO3, ROR2, RPGRIP1L, RPL10, RPS6KA3, RSPH1, RSPH4A, RSPH9, RTTN, RUNX2, RXYLT1, RYR1, SALL1, SALL4, SASS6, SATB2, SBDS, SCN4A, SDCCAG8, SEC24D, SELENON, SEMA3E, SEPSECS, SERPINF1, SERPINH1, SF3B4, SH3PXD2B, SHH, SHOC2, SHROOM4, SIX3, SIX6, SKI, SLC25A19, SLC26A2, SLC2A10, SLC34A3, SLC35D1, SLC38A8, SLC39A13, SLC5A7, SLC9A6, SMAD2, SMAD3, SMAD4, SMAD6, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMCHD1, SMOC1, SMS, SNAI2, SNAP29, SNTG1, SOS1, SOS2, SOX10, SOX11, SOX2, SOX9, SP7, SPAG1, SPECC1L, SPRED1, SPRY4, STAMBP, STIL, STRA6, SUFU, SYT2, TAF6, TBC1D20, TBC1D23, TBC1D24, TBX1, TBX15, TBX2, TBX22, TBX3, TBX5, TBX6, TCF12, TCF4, TCOF1, TCTN1, TCTN2, TCTN3, TENM3, TFAP2A, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TK2, TMCO1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMEM70, TMTC3, TNFRSF11B, TNNI2, TNNT1, TNNT3, TNXB, TOR1A, TP63, TPM2, TPM3, TRAF3IP1, TRIM32, TRIP11, TRMT10A, TRPS1, TRPV4, TSC1, TSC2, TSEN15, TSEN2, TSEN54, TTC21B, TTC8, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP4, TUBGCP6, TWIST1, TXNL4A, TYR, UBA1, VAMP1, VCAN, VIPAS39, VLDLR, VPS13B, VPS33B, VPS53, VRK1, VSX2, WDPCP, WDR11, WDR19, WDR35, WDR62, WNT1, WNT5A, WNT7A, XYLT1, YWHAE, ZBTB24, ZC4H2, ZEB2, ZFPM2, ZIC1, ZIC2, ZIC3, ZMYND10, ZNF335, ZNF423, ZNF469, ZSWIM6

GLOBAL SKELETAL DYSPLASIAS: 572 genes – Delivery time: 3-4 weeks

ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, ADCY6, AEBP1, AFF4, AGA, AGPS, AIFM1, AKT1, ALDH18A1, ALG12, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANAPC1, ANKH, ANKRD11, ANO5, ANTXR2, APC2, ARHGAP31, ARID1A, ARID1B, ARID2, ARSB, ARSE, ASCC1, ASPM, ASXL1, ATP6V0A2, ATR, ATRIP, B3GALT6, B3GAT3, B4GALT7, BANF1, BGN, BHLHA9, BICRA, BMP1, BMP2, BMPER, BMPR1B, BRCA1, BRCA2, BRIP1, BTRC, C1R, C1S, C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC8, CCNQ, CDC6, CDC73, CDH3, CDK5RAP2, CDKN1C, CDT1, CENPE, CENPJ, CEP120, CEP135, CEP152, CEP290, CEP63, CFAP410, CHST14, CHST3, CHSY1, CHUK, CKAP2L, CLCN5, CLCN7, CNTNAP1, COG1, COG4, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL27A1, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CPLANE1, CREB3L1, CREBBP, CRIPT, CRLF1, CRTAP, CSF1R, CSGALNACT1, CSPP1, CTNS, CTSA, CTSK, CUL7, CYP27B1, CYP2R1, DDR2, DDRGK1, DDX58, DDX59, DHCR24, DHCR7, DHODH, DIP2C, DLL1, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DNA2, DNM2, DNMT3A, DOCK6, DPCD, DPM1, DSE, DVL1, DYM, DYNC2H1, EBP, ECEL1, EDN1, EDNRA, EFEMP2, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ENAM, ENPP1, EOGT, EP300, ERBB3, ERCC4, ERF, ESCO2, EVC, EVC2, EXOC6B, EXT1, EXT2, EXTL3, EZH2, FAH, FAM111A, FAM20A, FAM20C, FAM83H, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAR1, FAT4, FBLN1, FBLN5, FBN1, FBN2, FBXW4, FERMT3, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FREM1, FTO, FUCA1, FUZ, GALNS, GALNT3, GCM2, GDF3, GDF5, GDF6, GHR, GHRHR, GHSR, GJA1, GLB1, GLE1, GLI1, GLI2, GLI3, GNAI3, GNAS, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC3, GPC4, GPC6, GPX4, GREM1, GSC, GUSB, HDAC4, HDAC8, HES7, HGSNAT, HMGA2, HOXA11, HOXA13, HOXD10, HOXD13, HPGD, HRAS, HSPA9, HSPG2, HYAL1, HYLS1, IARS2, ICK, ID4, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT80, IGF1, IGF2, IHH, IKBKG, IL11RA, IL1RN, IMPAD1, INPPL1, INTU, IRX5, JAG1, KAT6B, KCNJ2, KIF22, KIF7, KL, KMT2A, KMT2D, KYNU, LARP7, LBR, LEMD3, LFNG, LIFR, LIG4, LMBR1, LMNA, LMNB1, LMX1B, LONP1, LOX, LPIN2, LRP4, LRP5, LTBP1, LTBP2, LTBP3, LTBP4, MAFB, MAN2B1, MANBA, MAP2K1, MASP1, MATN3, MBTPS2, MCM5, MCPH1, MECOM, MED12, MEGF8, MEN1, MEOX1, MESD, MESP2, MET, MFAP5, MFSD2A, MGP, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MSX2, MTAP, MYBPC1, MYCN, MYH3, MYH8, MYO18B, NAGLU, NBAS, NEK1, NEU1, NF1, NFIX, NIN, NIPBL, NKX3-2, NLRP3, NME1, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NRAS, NSD1, NSDHL, NTRK1, NXN, OBSL1, OCRL, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, PALB2, PAM16, PAPSS2, PAX3, PCGF2, PCNT, PCYT1A, PDE4D, PDGFRB, PEX5, PEX7, PGM3, PHEX, PHF21A, PHGDH, PIEZO2, PIGO, PIGV, PIK3CA, PIK3R1, PIP5K1C, PITX1, PLCB4, PLEKHM1, PLK4, PLOD1, PLOD2, PLOD3, PLS3, POC1A, POLE, POLL, POLR1C, POLR1D, POLR3A, POLR3B, POP1, POR, PPIB, PPP3CA, PRDM5, PRG4, PRKAR1A, PRKG2, PSAT1, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAD21, RAD51, RAD51C, RASGRP2, RBBP8, RBM8A, RBPJ, RECQL4, RIPK4, ROR2, RPGRIP1L, RTTN, RUNX2, SALL1, SALL4, SBDS, SC5D, SEC23A, SEC24D, SERPINF1, SERPINH1, SETBP1, SETD2, SETD5, SF3B4, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SIX2, SKI, SLC17A5, SLC26A2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SLX4, SMAD2, SMAD3, SMAD4, SMAD6, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SMS, SNRPB, SNX10, SOST, SOX11, SOX9, SP7, SPECC1L, SQSTM1, SRCAP, STAMBP, SUCO, SUFU, SULF1, SUMF1, SUZ12, TAB2, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN3, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMCO1, TMEM165, TMEM216, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNNI2, TNNT3, TNXB, TP63, TPM2, TRAF3IP1, TRAPPC2, TREM2, TRIM37, TRIP11, TRMT10A, TRPS1, TRPV4, TTC21B, TTR, TUBGCP4, TUBGCP6, TWIST1, TYROBP, UBE2T, UBE3B, VANGL1, VDR, VIPAS39, WASHC5, WDR19, WDR34, WDR35, WDR4, WDR60, WISP3, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XRCC2, XRCC4, XYLT1, XYLT2, YY1, ZBTB42, ZIC1, ZMPSTE24, ZNF141, ZNF335, ZNF469, ZSWIM6

IMPERFECT OSTEOGENESIS AND BONE FRAGILITY: 83 genes – Delivery time: 3-4 weeks

AGPS, ALPL, ANO5, ARSE, ASCC1, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, BMP1, CA2, CASR, CLCN5, CLCN7, COL1A1, COL1A2, COL2A1, CREB3L1, CRTAP, CTNS, CTSK, CYP27B1, CYP2R1, DDX58, DLL3, DMP1, DYNC2H1, ENPP1, EVC, EVC2, FAH, FAM20C, FGF23, FGFR1, FGFR2, FGFR3, FKBP10, FLNB, GNAS, GNPAT, GORAB, IFIH1, IFITM5, LMNA, LRP5, MAFB, MBTPS2, MESD, MMP2, NBAS, NEK1, NOTCH2, NTRK1, OCRL, OSTM1, P3H1, PHEX, PLOD2, PLS3, POLR3A, PPIB, PYCR1, SEC24D, SERPINF1, SERPINH1, SLC26A2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SNX10, SOX9, SP7, SUCO, TCIRG1, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TRIP11, VDR, WNT1, XYLT2

JOINT HYPERMOBILITY AND ASSOCIATED DISORDERS: 109 genes – Delivery time: 3-4 weeks

ABCC6, ACTA2, ADAMTS10, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BGN, BMP1, BRAF, C1R, C1S, CANT1, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, CRTAP, CST3, DLG4, DSE, EFEMP2, ELN, EXOC6B, FBLN5, FBN1, FBN2, FGD1, FGFR3, FKBP10, FKBP14, FLNA, FLNB, FMR1, FOXE3, GALNS, GORAB, HRAS, IFITM5, IMPAD1, KDM6A, KIF22, KMT2D, KRAS, LOX, LTBP2, LTBP4, LZTR1, MAP2K1, MAP2K2, MED12, MYH11, MYH7, MYLK, NOTCH1, NOTCH3, NRAS, P3H1, PLOD1, PLOD2, PLOD3, PPIB, PRDM5, PRKG1, PTPN11, PYCR1, RAF1, RIN2, RIT1, RYR1, SERPINH1, SKI, SLC26A2, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SOS1, SOS2, SP7, SSPN, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, TRPS1, TTN, TYMP, VCAN, XYLT1, ZNF469

LOW SIZE: 198 genes – Delivery time: 3-4 weeks

ACAN, ACTB, ACTG1, ADAMTS10, AGPS, ALMS1, ALPL, ANKRD11, ARID1A, ARID1B, ARSB, ARSE, ATR, ATRIP, ATRX, B3GAT3, BCS1L, BLM, BMP2, BRAF, BRD4, BRF1, BTK, CBL, CCDC8, CDC6, CDT1, CENPJ, CEP152, CEP63, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CREBBP, CRIPT, CRTAP, CTSK, CUL7, DHCR7, DNA2, DVL1, EBP, EP300, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EVC, EVC2, EXT1, EXT2, FANCA, FANCC, FANCG, FBN1, FGD1, FGF23, FGFR3, FLNB, FN1, GALNS, GH1, GHR, GHRHR, GHSR, GLB1, GLI2, GLI3, GNAS, GNPAT, GPC3, GUSB, HDAC8, HESX1, HRAS, HSPG2, IDS, IDUA, IGF1, IGF1R, IGF2, IGFALS, IHH, INSR, IRS1, KDM6A, KMT2D, KRAS, LARP7, LFNG, LHX3, LHX4, LIFR, LIG4, LMNA, LTBP2, LTBP3, LZTR1, MAP2K1, MAP2K2, MASP1, MATN3, MCM5, NBN, NF1, NIN, NIPBL, NME1, NOTCH2, NPPC, NPR2, NRAS, OBSL1, ORC1, ORC4, ORC6, OTX2, P3H1, PACS1, PCNT, PDE4D, PEX7, PHEX, PIEZO2, PIK3R1, PITX2, PLK4, POC1A, POP1, POU1F1, PPP3CA, PRKAR1A, PRMT7, PROKR2, PROP1, PSPH, PTH1R, PTPN11, PUF60, RAD21, RAF1, RAI1, RASA2, RBBP8, RIT1, ROR2, RPS6KA3, RRAS, RRAS2, RTTN, RUNX2, SATB2, SHOC2, SHOX, SLC26A2, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SOS1, SOS2, SOX11, SOX2, SOX3, SOX9, SPRED1, SRCAP, STAG1, STAG2, STAT5B, TALDO1, TBCE, TBX19, TBX2, TBX3, THRB, TOP3A, TRAPPC2, TRIM37, TRMT10A, TRPS1, UBE3B, WNT5A, WRN, XRCC4

MALFORMATION OF LIMBS: 261 genes – Delivery time: 3-4 weeks

ACTB, ACTG1, ACVR1, ADAMTS10, ADAMTS17, AFF4, AHI1, AKT1, ALX4, ANKRD11, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL6, ATR, B3GAT3, B3GLCT, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BHLHA9, BMP2, BMP4, BMP7, BMPR1A, BMPR1B, BRCA2, BRIP1, BTRC, C2CD3, CACNA1C, CC2D2A, CCNQ, CD96, CDC6, CDH3, CDT1, CEP120, CEP290, CEP41, CHRNG, CHST3, CHSY1, CHUK, CKAP2L, COL2A1, CPLANE1, CREBBP, CSPP1, DDX59, DHCR7, DHODH, DLL4, DLX5, DLX6, DOCK6, DPCD, DVL1, DVL2, DYM, DYNC1I1, EFNB1, EFTUD2, EIF4A3, EOGT, EP300, ERCC4, ESCO2, EVC, EVC2, EXT1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAT1, FBLN1, FBN1, FBXW4, FGF10, FGF16, FGF2, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FMN1, FRAS1, FREM2, GDF5, GDF6, GJA1, GLI2, GLI3, GNAS, GPC3, GREM1, GRIP1, GSC, HAND2, HDAC4, HDAC8, HOXA11, HOXA13, HOXD10, HOXD13, IDH1, IDH2, IFT122, IFT43, IHH, INPP5E, IRF6, KDM6A, KIF7, KMT2A, KMT2D, KRT6A, KYNU, LEF1, LMBR1, LMX1B, LRP4, LRP5, LTBP2, LTBP3, MEGF8, MGP, MIPOL1, MKKS, MKS1, MRE11, MSX1, MSX2, MYCN, MYH3, NECTIN1, NECTIN4, NIPBL, NKX2-5, NOG, NOTCH1, NPHP1, NPHP3, NPR2, NSDHL, NXN, OFD1, ORC1, ORC4, ORC6, PALB2, PBX1, PDE4D, PDE6D, PGM3, PHF6, PIGV, PIK3CA, PITX1, PITX2, POR, PORCN, PRKAR1A, PRMT7, PRRX1, PTCH1, PTCH2, PTDSS1, PTEN, PTH1R, PTHLH, PUF60, RAB23, RAD21, RAD51C, RBM8A, RBPJ, RECQL4, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SC5D, SDCCAG8, SETD5, SF3B4, SHH, SHOX, SHOX2, SLC26A2, SLX4, SMAD4, SMAD6, SMAD7, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SOST, SOX11, SOX5, SOX6, SOX9, SPRY4, TBX15, TBX22, TBX3, TBX4, TBX5, TCTN1, TCTN2, TCTN3, TFAP2B, TGDS, THPO, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TP63, TRAP1, TRAPPC9, TRIM32, TRPS1, TRPV4, TTC21B, TTC8, TWIST1, WDPCP, WDR19, WDR35, WNT10B, WNT3, WNT5A, WNT7A, XRCC2, ZNF423, ZSWIM6

METAPHYSEAL DYSPLASIA: 11 genes – Delivery time: 3-4 weeks

ANKH, CDKN1C, COL10A1, FGFR3, FLNA, MMP13, MMP9, NKX3-2, PTH1R, RUNX2, SBDS

MICROCEPHALY: 127 genes – Delivery time: 3-4 weeks

AKT3, AMPD2, ANKLE2, AP4M1, ARFGEF2, ASPM, ASXL1, ATR, ATRIP, ATRX, BRAT1, BUB1B, C7orf43, CASK, CDC6, CDK5RAP2, CDK6, CDKL5, CDT1, CENPE, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CKAP2L, CLP1, COASY, COX7B, CREBBP, CRIPT, CTNNA2, CTNNB1, DDX3X, DHCR7, DIAPH1, DNM1L, DYRK1A, EFTUD2, EP300, EXOSC3, EXOSC8, FOXG1, HMGB3, IER3IP1, KAT6A, KATNB1, KIF11, KIF14, KIF1A, KIF2A, KIF5C, KMT2D, KNL1, LIG4, MCM5, MCPH1, MECP2, MED17, MFSD2A, MRE11, MSMO1, MYCN, NBN, NCAPD2, NDE1, NHEJ1, NIN, NIPBL, NR2E1, ORC1, ORC4, ORC6, PAFAH1B1, PCLO, PCNT, PHC1, PLK4, PNKP, POMT1, PPP1R15B, PQBP1, QARS, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RBBP8, RNASEH2C, RTTN, SASS6, SEPSECS, SLC25A19, SLC2A1, SLC9A6, SNAP29, STAMBP, STIL, TBC1D20, TBC1D23, TCF4, THOC6, TRAPPC9, TRMT10A, TSEN15, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP4, TUBGCP6, UBE3A, VPS13B, VPS53, VRK1, WDFY3, WDR62, WDR73, XRCC4, ZEB2, ZNF335

MICROMELIC DYSPLASIA: 28 genes – Delivery time: 3-4 weeks

ADAMTS10, ADAMTSL2, BMPR1B, DVL1, EXT1, FBN1, FGFR3, GDF5, GNAS, GPC6, IFT122, IFT140, IHH, INPPL1, LIFR, LTBP2, NPR2, PRKAR1A, ROR2, SHOX, SLC35D1, SMAD4, SOX9, TRIP11, TRPS1, WDR19, WDR35, WNT5A

MULTIPLE EPYPHYSARY DYSPLASIA: 9 genes – Delivery time: 3-4 weeks

CANT1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDR2, MATN3, SLC26A2

OSTEOPETROSIS AND HIGH BONE DENSITY DISEASES: 30 genes – Delivery time: 3-4 weeks

AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DLX3, FAM20C, FERMT3, GJA1, HPGD, LEMD3, LRP4, LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, PTH1R, SLC29A3, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP

OVERGROWTH AND MACROCEPHALY: 107 genes – Delivery time: 3-4 weeks

ABCC6, ABCC9, AIP, AKT1, AKT2, AKT3, ANKH, ASPA, BRSK2, BRWD3, CCND2, CDKN1C, CHD3, CHD8, CUL4B, D2HGDH, DHCR24, DICER1, DIS3L2, DNMT3A, DVL1, EIF2B5, EZH2, FBN1, FGFR3, FGFRL1, FMR1, FOXP1, GATAD2B, GCDH, GFAP, GLI3, GNAQ, GNAS, GPC3, GPC4, GPSM2, GRIA3, HEPACAM, HERC1, HMGA2, HRAS, HUWE1, IGF1R, KCNH1, KDM1A, KIF7, KMT2E, KPTN, KRAS, L1CAM, LBR, LRP4, MED12, MLC1, MPDZ, MTOR, NF1, NFIA, NFIB, NFIX, NPR2, NRAS, NSD1, ODC1, OFD1, PAX1, PDGFRB, PHF21A, PHF6, PIGA, PIGM, PIGN, PIK3CA, PIK3R2, PLOD1, PPP2R5B, PPP2R5C, PPP2R5D, PTCH1, PTEN, RAB39B, RASA1, RIN2, RNF125, RNF135, SETD2, SHANK3, SIM1, SOS1, SOST, SPRED1, STRADA, SUZ12, SYN1, SZT2, TBC1D7, TGFB3, TMCO1, TRIO, TRIP12, TSC1, TSC2, UPF3B, WASHC5, WNT5A, ZBTB20

PAGET BONE DISEASE AND RELATED DISORDERS: 6 genes – Delivery time: 3-4 weeks

HNRNPA1, HNRNPA2B1, SQSTM1, TNFRSF11A, TNFRSF11B, VCP

POLYDACTYLY: 117 genes – Delivery time: 3-4 weeks

AHI1, AKT3, ALX3, ALX4, ARHGAP31, ARL13B, ARL6, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BHLHA9, BMP4, CANT1, CC2D2A, CCBE1, CCDC28B, CCND2, CEP120, CEP164, CEP290, CEP41, CPLANE1, CSPP1, DHCR7, DLL4, DLX5, DLX6, DOCK6, DYNC2H1, EBP, EOGT, EVC, EVC2, FBLN1, FBN1, FBXW11, FGFR2, FLNA, FUZ, GDF5, GLI1, GLI2, GLI3, HOXD13, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IHH, INPP5E, INTU, IQCE, KIF7, KMT2A, LMBR1, LZTFL1, MIPOL1, MKKS, MKS1, MSX1, MYCN, NEK1, NPHP1, NPHP3, OFD1, PAPSS2, PCNT, PDE6D, PDGFC, PIK3CA, PIK3R2, PITX1, PITX2, RAB23, ROR2, RPGRIP1L, SALL1, SALL4, SDCCAG8, SETD5, SHH, SLC25A21, SLC26A2, SMO, SOX9, STAG2, TBX3, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNNT3, TRAF3IP1, TRIM32, TTC21B, TTC8, TWIST1, WDPCP, WDR19, WDR35, WNT10B, ZNF141, ZSWIM6

PREAURICULAR PROTuberance: 36 genes – Delivery time: 3-4 weeks

ALX3, ANKRD11, APRT, ARID1B, B3GLCT, BCOR, CCDC22, CDK5RAP2, CHD7, COL25A1, EDNRA, EFTUD2, EYA1, FGFR1, FLNB, GLI3, GNAI3, GPC3, IRX5, KDM6A, KIF7, KMT2D, MAFB, NAA10, PLCB4, SALL1, SEMA3E, SF3B4, SIX1, SIX5, SIX6, SPG7, TCOF1, TXNL4A, UBE3B, VPS13B

PRIMORDIAL DWARFING: 30 genes – Delivery time: 3-4 weeks

ATR, ATRIP, BCS1L, CCDC8, CDC6, CDK5RAP2, CDT1, CENPJ, CEP152, CEP63, CRIPT, CUL7, DNA2, DNMT3A, LARP7, LIG4, NIN, NOTCH2, OBSL1, ORC1, ORC4, ORC6, PCNT, PLK4, POC1A, RBBP8, RTTN, SRCAP, TRIM37, XRCC4

ROBINOW SYNDROME: 10 genes – Delivery time: 3-4 weeks

DVL1, FGD1, KDM6A, KMT2D, MID1, NXN, ROR2, SPECC1L, TWIST1, WNT5A

SECKEL SYNDROME: 12 genes – Delivery time: 3-4 weeks

ATR, ATRIP, CENPE, CENPJ, CEP152, CEP63, DNA2, LIG4, NIN, PCNT, PLK4, RBBP8

SKELETAL DYSPLASIAS AND GLOBAL GROWTH DISEASES: 753 genes – Delivery time: 3-4 weeks

ABCC9, ACAN, ACP5, ACTA2, ACTB, ACTG1, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL4, ADCY6, AEBP1, AFF4, AGA, AGPS, AHI1, AIFM1, AKT1, AKT3, ALDH18A1, ALDH1A3, ALDH2, ALG12, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANAPC1, ANKH, ANKRD11, ANO5, ANTXR2, APC2, ARHGAP31, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARSB, ARSE, ASCC1, ASPM, ASTN2, ASXL1, ASXL3, ATP6V0A2, ATP7A, ATR, ATRIP, B3GALT6, B3GAT3, B4GALT7, B9D1, B9D2, BANF1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCO1, BCOR, BCS1L, BGN, BHLHA9, BICRA, BLM, BMP1, BMP2, BMP4, BMPER, BMPR1B, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BTRC, C1R, C1S, C2CD3, CA2, CACNA1C, CANT1, CASR, CBL, CBS, CC2D2A, CCBE1, CCDC8, CCND2, CCNQ, CDC42, CDC6, CDC73, CDH1, CDH3, CDK5RAP2, CDKN1C, CDT1, CENPE, CENPJ, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CFAP410, CHD7, CHST14, CHST3, CHSY1, CHUK, CKAP2L, CLCN5, CLCN7, CNTNAP1, COG1, COG4, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL27A1, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COLEC11, COMP, COX4I1, CPLANE1, CREB3L1, CREBBP, CRIPT, CRLF1, CRTAP, CSF1R, CSGALNACT1, CSPP1, CSTA, CTCF, CTNND1, CTNS, CTSA, CTSK, CUL7, CYP26B1, CYP27B1, CYP2R1, DDR2, DDRGK1, DDX58, DDX59, DHCR24, DHCR7, DHODH, DIP2C, DLL1, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DNA2, DNM2, DNMT3A, DOCK6, DPCD, DPM1, DSE, DVL1, DVL2, DYM, DYNC1I1, DYNC2H1, EBP, ECEL1, EDN1, EDNRA, EFEMP2, EFNB1, EFTUD2, EHHADH, EIF2AK3, EIF4A3, ELN, ENAM, ENPP1, EOGT, EP300, ERBB3, ERCC4, ERF, ESCO2, ESPL1, EVC, EVC2, EXOC6B, EXT1, EXT2, EXTL3, EYA1, EZH2, FAH, FAM111A, FAM20A, FAM20C, FAM83H, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FAT1, FAT4, FBLN1, FBLN5, FBN1, FBN2, FBXL4, FBXW11, FBXW4, FDFT1, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FOXE3, FRAS1, FREM1, FREM2, FTO, FUCA1, FUZ, GALNS, GALNT3, GCM2, GDF3, GDF5, GDF6, GGCX, GH1, GHR, GHRHR, GHSR, GJA1, GLB1, GLE1, GLI1, GLI2, GLI3, GNAI3, GNAS, GNE, GNPAT, GNPTAB, GNPTG, GNS, GON4L, GORAB, GPC3, GPC4, GPC6, GPX4, GREM1, GRHL2, GRHL3, GRIN2B, GSC, GUSB, HDAC4, HDAC8, HES7, HESX1, HGSNAT, HMGA2, HNF4A, HOXA1, HOXA11, HOXA13, HOXD10, HOXD13, HPGD, HRAS, HSPA9, HSPG2, HYAL1, HYLS1, IARS2, ICK, ID4, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IGF1, IGF1R, IGF2, IGFALS, IHH, IKBKG, IL11RA, IL1RN, IMPAD1, INPP5E, INPPL1, INSR, INTU, IQCE, IRF6, IRS1, IRX5, JAG1, KAT6A, KAT6B, KATNB1, KCNJ2, KCNN3, KCTD1, KDM1A, KDM5B, KDM6A, KDM6B, KIF14, KIF22, KIF7, KL, KMT2A, KMT2D, KRAS, KYNU, LARP7, LBR, LEMD3, LFNG, LHX3, LHX4, LIFR, LIG4, LMBR1, LMNA, LMNB1, LMX1B, LONP1, LOX, LPIN2, LRP4, LRP5, LTBP1, LTBP2, LTBP3, LTBP4, LZTFL1, LZTR1, LZTS1, MAB21L2, MAFB, MAN2B1, MANBA, MAP2K1, MAP2K2, MASP1, MAT2A, MATN3, MBL2, MBTPS2, MCM5, MCPH1, MECOM, MED12, MEGF8, MEIS2, MEN1, MEOX1, MEPE, MESD, MESP2, MET, MFAP5, MFSD2A, MGP, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MSX1, MSX2, MTAP, MYBPC1, MYCN, MYH11, MYH3, MYH8, MYLK, MYO18B, NAA10, NAGLU, NBAS, NECTIN4, NEDD4L, NEK1, NEU1, NF1, NFIX, NIN, NIPBL, NKX3-2, NLRP3, NME1, NOG, NOTCH1, NOTCH2, NPHP1, NPHP3, NPPC, NPR2, NPR3, NRAS, NRXN1, NSD1, NSD2, NSDHL, NSUN2, NTRK1, NXN, OBSL1, OCRL, OFD1, ORC1, ORC4, ORC6, OSTM1, OTX2, P3H1, PACS1, PALB2, PAM16, PAPSS2, PAX3, PAX8, PCGF2, PCNT, PCYT1A, PDE4D, PDE6D, PDGFC, PDGFRB, PEX14, PEX19, PEX5, PEX7, PGAP3, PGM3, PHEX, PHF21A, PHF6, PHGDH, PIEZO2, PIGN, PIGO, PIGV, PIK3CA, PIK3R1, PIK3R2, PIP5K1C, PITX1, PITX2, PLCB4, PLEKHM1, PLK4, PLOD1, PLOD2, PLOD3, PLP1, PLS3, POC1A, POLA1, POLD3, POLE, POLL, POLR1C, POLR1D, POLR3A, POLR3B, POP1, POR, PORCN, POU1F1, PPIB, PPP3CA, PRDM5, PRG4, PRKAR1A, PRKG1, PRKG2, PRMT7, PROK2, PROP1, PSAT1, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAC1, RAD21, RAD51, RAD51C, RAF1, RAP1A, RAP1B, RASA2, RASGRP2, RBBP8, RBM8A, RBPJ, RECQL4, RET, RIN2, RIPK4, RIT1, ROR2, RPGRIP1L, RRAS, RTTN, RUNX2, SALL1, SALL4, SBDS, SBF1, SC5D, SCN1A, SDCCAG8, SEC23A, SEC24D, SEM1, SERPINF1, SERPINH1, SETBP1, SETD2, SETD5, SF3B4, SGCE, SGSH, SH3BP2, SH3PXD2B, SHH, SHOC2, SHOX, SIX1, SIX2, SIX5, SKI, SLC17A5, SLC25A12, SLC25A21, SLC26A2, SLC29A3, SLC2A10, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SLX4, SMAD2, SMAD3, SMAD4, SMAD6, SMARCA2, SMARCA4, SMARCAD1, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMO, SMOC1, SMS, SNRPB, SNX10, SOS1, SOST, SOX11, SOX2, SOX3, SOX9, SP7, SPECC1L, SQSTM1, SRCAP, STAG2, STAMBP, STAT5B, SUCO, SUFU, SULF1, SUMF1, SUZ12, TAB2, TAF1, TAF6, TALDO1, TBCE, TBX1, TBX15, TBX19, TBX2, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN1, TCTN2, TCTN3, TFAP2A, TFAP2B, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, THPO, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFRSF1A, TNFSF11, TNNI2, TNNT3, TNXB, TOP3A, TP63, TPM2, TRAF3IP1, TRAPPC2, TREM2, TRIM32, TRIM37, TRIP11, TRMT10A, TRNT1, TRPS1, TRPV4, TTC21B, TTC8, TTR, TUBGCP4, TUBGCP6, TWIST1, TXNL4A, TYROBP, UBE2T, UBE3B, VANGL1, VDR, VIPAS39, WASHC5, WDPCP, WDR19, WDR34, WDR35, WDR4, WDR60, WISP3, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XRCC2, XRCC4, XYLT1, XYLT2, YY1, ZBTB18, ZBTB42, ZIC1, ZMPSTE24, ZNF141, ZNF335, ZNF469, ZNF668, ZSWIM6

SPONDYLOCOSTAL DYSOSTOSIS/JARCHO-LEVIN SYNDROME AND DIFFERENTIAL DIAGNOSIS: 24 genes – Delivery time: 3-4 weeks

ACVR1, ANKRD11, CHD7, CHRNG, DLL1, DLL3, FLNB, GDF6, GPC3, HES7, HSPG2, JAG1, LFNG, MESP2, MKKS, MNX1, NOTCH2, PAX1, RECQL4, ROR2, SLC26A2, SOX9, TBX6, WNT4

SPONDYLOMETAPHYSEAL DYSPLASIA: 30 genes – Delivery time: 3-4 weeks

ACAN, ACP5, B3GALT6, BGN, CANT1, CHST3, COL11A1, COL11A2, COL2A1, DDR2, DYM, EIF2AK3, FN1, HSPG2, INPPL1, KIF22, LONP1, MATN3, MMP13, NKX3-2, PAM16, PAPSS2, PCYT1A, POP1, RAB33B, SLC39A13, SMARCAL1, TRAPPC2, TRPV4, WISP3

SYNDACTYLY: 133 genes – Delivery time: 3-4 weeks

AKT3, ALDH1A3, ANKRD11, ARHGAP31, ARL6, ASTN2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCO1, BCOR, BHLHA9, BMP4, BMPR1B, CCDC28B, CCNQ, CDH1, CDH3, CEP290, CHSY1, CHUK, CKAP2L, COL2A1, CREBBP, CRIPT, DHCR7, DLX5, DLX6, EBP, EFNB1, EFTUD2, EP300, ESCO2, FAT1, FBLN1, FDFT1, FGF16, FGF8, FGFR1, FGFR2, FGFR3, FMN1, FRAS1, FREM1, FREM2, GDF5, GJA1, GLI3, GNAS, GPC3, GREM1, GRHL2, GRIN2B, HOXA1, HOXA13, HOXD13, IFT27, IHH, IRF6, KAT6A, KATNB1, KCTD1, KDM6A, KDM6B, KIF7, KMT2D, LMBR1, LRP4, LRP5, LZTFL1, MAB21L2, MBL2, MED12, MEGF8, MEIS2, MKKS, MKS1, MYCN, MYH8, NAA10, NECTIN4, NEDD4L, NIPBL, NOG, OFD1, PAX3, PDE4D, PHF6, PHGDH, PIK3CA, PIK3R2, PORCN, PTDSS1, RAB23, RAD21, RALGAPA1, RECQL4, RIPK4, ROR2, SALL1, SALL4, SBF1, SDCCAG8, SEM1, SF3B4, SHH, SMARCAD1, SMC1A, SMC3, SMO, SMOC1, SOX9, SRCAP, TBX1, TCF12, TFAP2B, TMEM67, TNNT3, TP63, TRIM32, TTC8, TWIST1, WASHC5, WDPCP, WNT10B, WNT5A, ZBTB18

TREACHER COLLINS SYNDROME: 8 genes – Delivery time: 3-4 weeks

DHODH, EDNRA, EFTUD2, POLR1C, POLR1D, SF3B4, TCOF1, TXNL4A

VACTERL/VATER ASSOCIATION AND DIFFERENTIAL DIAGNOSIS: 98 genes – Delivery time: 3-4 weeks

ARID5A, AXIN1, B9D1, BMP2, BRCA1, BRCA2, BRIP1, CC2D2A, CCNQ, CHD4, CHD7, COX4I1, DSTYK, DYNC2H1, EFTUD2, EP300, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN2, FGF10, FGF8, FOXF1, FOXG1, FRAS1, FREM2, GDF6, GLI3, HOXA13, HOXD13, IFT172, JAG1, KCNJ2, KDM6A, KMT2A, KMT2D, KYNU, LPP, LRP4, MID1, MKKS, MNX1, MYCN, NIPBL, NOTCH2, OTX2, PALB2, PCSK5, PIGN, PTCH1, PTEN, PUF60, RAD51, RAD51C, RBM8A, RECQL4, RERE, RFX6, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, SALL1, SALL4, SEMA3E, SHH, SLX4, SMC1A, SMC3, SOX2, SPECC1L, SPINT2, SUFU, TBX1, TBX3, TBX5, TCOF1, TRAP1, TWIST1, UBE2T, VANGL1, WDR35, WNT4, WNT5A, WNT7A, XRCC2, ZIC3

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