Skeletal and Connective Tissue Disorders Panel
Skeletal and Connective Tissue Disorders Panel
Precio habitual
€29.00 EUR
Precio habitual
Precio de oferta
€29.00 EUR
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This product is only meant for customers who already purchased a MyGenome Test
The genetic variants analyzed in this panel are closely related to or potentially the cause of scheletal or connective tissue conditions
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
List of main conditions:
List of genes analyzed:
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
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The genetic variants analyzed in this panel are closely related to or potentially the cause of scheletal or connective tissue conditions
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
- Available in less than 24 hours
- Based on Whole Genome Sequencing
- More than 415 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Skeletal Dysplasia
- Osteogenesis Imperfecta
- Achondroplasia
- Achondrogenesis
- Loeys-Dietz Syndrome
List of genes analyzed:
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
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