Doenças neuromusculares

Neuropatias hereditárias e doença do neurónio motor

Lista de Genes
AARS1, ABCA1, ABHD12, ADPRS, AIFM1, ALS2, ANG, ANXA11, ARHGEF10, ASAH1, ASCC1, ATL1, ATL3, ATP13A2, ATP1A1, ATP7A
BAG3, BICD2, BSCL2
C9ORF72, CADM3, CCNF, CCT5, CHCHD10, CHCHD2, CHMP2B, CLTCL1, CNTNAP1, 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, GBF1, GDAP1, GJB1, GLA, GLE1, GLT8D1, GNB4, GNE, GRN, GSN
HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HNRNPA1, HOXD10, HSPB1, HSPB3, HSPB8
IGHMBP2, INF2, ITPR3
JAG1, JPH1
KARS1, KIF1A, KIF1B, KIF5A
LITAF, LMNA, LRP10, LRSAM1
MAPT, MARS1, MATR3, MED25, MFN2, MME, MORC2, MPDU1, 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, SORD, 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, VWA1
WARS1, WNK1
YARS1
90 dias
2mL de sangue em tubo com EDTA
Análise do DNA mitocondrial incluída. Pesquisa de expansões no gene C9ORF72 incluída