CHARCOT-MARIE-TOOTH : PANEL NGS – 34 genes

Secuenciación por NGS: AARS, BSCL2, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, HK1, HSPB1, HSPB8, INF2, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PRX, PMP22, PRPS1, RAB7A, SBF2, SH3TC2, TRPV4 & YARS