Skeletal and Connective Tissue Disorders Panel
Skeletal and Connective Tissue Disorders Panel
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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

Este producto sólo está destinado a los clientes que ya han comprado una prueba MyGenome