Doenças neuromusculares

Neuropatias hereditárias

Lista de Genes
AARS1, ABHD12, ADPRS, AIFM1, ARHGEF10, ASAH1, ATL1, ATL3, ATP13A2, ATP1A1, ATP7A, ATXN2
BAG3, BICD2, BSCL2
CADM3, CCNF, CCT5, CHCHD10, CHCHD2, CHMP2B, CLTCL1, CNTNAP1, COX6A1, CTDP1
DCAF8, DCTN1, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1
EGR2, ELP1, ERBB4
FAM126A, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, FUS
GALC, GAN, GARS1, GBF1, GDAP1, GJB1, GLA, GLE1, GNB4
HADHA, HADHB, HARS1, HEXB, HINT1, HK1, HNRNPA1, HOXD10, HSPB1, HSPB3, HSPB8
IGHMBP2, INF2, ITPR3
JAG1, JPH1
KARS1, KIF1A, KIF1B, KIF26B, KIF5A
LITAF, LMNA, LRP10, LRSAM1
MARS1, MATR3, MCM3AP, MED25, MFN2, MME, MORC2, MPDU1, MPV17, MPZ, MTMR2, MTRFR, MYH14
NAGLU, NDRG1, NEFH, NEFL, NEK1, NEK9, NGF, NTRK1
OPTN
PDK3, PFN1, PLEKHG5, PLP1, PMP2, PMP22, PNKP, POLG, PRDM12, PRPH, PRPS1, PRUNE1, PRX
RAB7A, REEP1, RETREG1, RNF170
SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SCO2, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SOD1, SORD, SOX10, SPAST, SPG11, SPTLC1, SPTLC2, SQSTM1, SURF1
TARDBP, TBK1, TFG, TRIM2, TRIP4, TRPV4, TTR, TUBA4A, TUBB3
UBA1, UBQLN2
VAPB, VCP, VWA1
WARS1, WNK1
YARS1
90 dias
2mL de sangue em tubo com EDTA
Estudo acreditado pelo IPAC, segundo os requisitos da norma ISO 15189:2014. Mais informações em https://www.testegenetico.com/qualidade-e-acreditacao/. Análise do DNA mitocondrial incluída