NGS and bioinformatic CNVs screening, 54-gene panel: AARS,AIFM1,ARHGEF10,COX6A1,DHTKD1,DNAJB2,DNM2,DYNC1H1,EGR2,FGD4,FIG4,GARS,GDAP1,GJB1,GNB4,HARS,HK1,HOXD10,HSPB1,HSPB8,IGHMBP2,INF2,KARS,KIF1B,LITAF,LMNA,LRSAM1,MARS,MED25,MFN2,MME,MORC2,MPV17,MPZ,MTMR2,NAGLU,NDRG1,NEFH,NEFL,PDK3,PLEKHG5,PMP22,PRPS1,PRX,RAB7A,SBF1,SBF2,SH3TC2,SPG11,SURF1,TRIM2,TRPV4,VCP,YARS,

Consult

Ref: LV4258 Categories: , , , , , , Diseases: Charcot-Marie-Tooth DiseaseGenes: KIF1B, KARS, PDK3, RAB7A, DNM2, MTMR2, AARS, SBF1, NEFH, SPG11, GDAP1, NDRG1, ARHGEF10, MED25, PRX, GARS, HSPB1, NAGLU, PMP22, TRIM2, TRPV4, COX6A1, FIG4, GNB4, MPV17, MFN2, EGR2, HOXD10, IGHMBP2, MORC2, SBF2, YARS, DNAJB2, FGD4, PRPS1, SURF1, LRSAM1, HSPB8, HK1, AIFM1, MPZ, LMNA, VCP, MARS, SH3TC2, GJB1, HARS, PLEKHG5, DHTKD1, LITAF, MME, DYNC1H1, INF2, NEFL-2Delivery term: 49 days