Neuropatias hereditárias e doença do neurónio motor

Lista de Genes
AARS1, ABCA1, ABHD12, AIFM1, ALS2, ANG, ANXA11, ARHGEF10, ASAH1, ASCC1, ATL1, ATL3, ATP13A2, ATP1A1, ATP7A
BAG3, BICD2, BSCL2
CCNF, CCT5, CHCHD10, CHCHD2, CHMP2B, CLTCL1, COX6A1, CTDP1
DAO, DCAF8, DCTN1, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1
EGR2, ELP1, ELP3, ERBB4, ERLIN1, EWSR1, EXOSC3, EXOSC8, EXOSC9
FAM126A, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, FUS
GALC, GAN, GARS1, GDAP1, GJB1, GLA, GLE1, GLT8D1, GNB4, GNE, GRN, GSN
HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HNRNPA1, HOXD10, HSPB1, HSPB3, HSPB8
IGHMBP2, INF2
JPH1
KARS1, KIF1A, KIF1B, KIF5A
LITAF, LMNA, LRSAM1
MAPT, MARS1, MATR3, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MYH14
NAGLU, NDRG1, NEFH, NEFL, NEK1, NGF, NTRK1
OPTN
PDK3, PFN1, PIP5K1C, PLEKHG5, PLP1, PMP2, PMP22, PNKP, POLG, PRDM12, PRPH, PRPS1, PRUNE1, PRX
RAB7A, RBM7, REEP1, RETREG1, RNF170
SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SCO2, SCP2, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SOD1, SOX10, SPART, SPAST, SPG11, SPTLC1, SPTLC2, SQSTM1, SURF1
TAF15, TARDBP, TBCD, TBCE, TBK1, TFG, TIA1, TREM2, TRIM2, TRIP4, TRPV4, TTR, TUBA4A, TUBB3
UBA1, UBQLN2, UNC13A
VAPB, VCP, VRK1
WARS1, WNK1
YARS1
90 dias
2mL de sangue em tubo com EDTA