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Skeletal and Connective Tissue Disorders Panel

Skeletal and Connective Tissue Disorders Panel

Prezzo di listino €49.00 EUR
Prezzo di listino Prezzo scontato €49.00 EUR
In offerta Esaurito
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.
  • 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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Questo prodotto è destinato esclusivamente ai clienti che hanno già acquistato un test MyGenome