Doenças do movimento

Paraparésia espástica alargado

Lista de Genes
ABCB7, ABCD1, ABHD16A, ACO2, ADAR, ADD3, AFG3L2, AIMP1, ALDH18A1, ALS2, AMPD2, ANG, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSI, ATL1, ATP13A2, ATP2B4, ATRX, AUH
B4GALNT1, BICD2, BSCL2
C19ORF12, CAPN1, CCT5, CHMP2B, CHP1, CLCN2, CLN8, CPT1C, CYP27A1, CYP2U1, CYP7B1
DARS1, DARS2, DDHD1, DDHD2, DNM2, DSTYK, DYNC1H1
EIF2B5, ELOVL4, ENTPD1, ERLIN1, ERLIN2, EXOSC3
FA2H, FARS2, FIG4, FLRT1, FUS
GAD1, GALC, GAN, GBA2, GCH1, GFAP, GJA1, GJC2, GRID2
HACE1, HIKESHI, HSPD1
IBA57, IFIH1, ITPR1
KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4
L1CAM, LYST
MAG, MARS1, MARS2, MTHFR, MTPAP, MTRFR
NARS2, NFU1, NIPA1, NKX6-2, NT5C2
OPA1, OPA3, OPTN
PANK2, PCYT2, PGAP1, PLA2G6, PLP1, PNPLA6, POLR3A, PSEN1
RAB3GAP2, RARS1, REEP1, REEP2, RETREG1, RNASEH2B, RTN2
SACS, SAMHD1, SARS2, SERAC1, SIGMAR1, SLC16A2, SLC1A4, SLC25A46, SLC2A1, SLC33A1, SOD1, SPART, SPAST, SPG11, SPG21, SPG7, SPR, STUB1, SYNE1
TARDBP, TECPR2, TFG, TGM6, TUBB4A
UBAP1, UBQLN2, UCHL1, UNC80, USP8
VAMP1, VAPB, VCP, VPS37A
WASHC5, WDR45B, WDR48
ZFR, ZFYVE26, ZFYVE27
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