|
Parkinson e Demências |
Painel por Sequenciamento de Próxima Geração |
A2M, AAAS, ACE, ACMSD, ADH1C, APOE, APP, ATP13A2, ATP1A3, ATXN2, CHCHD2, CSF1R, DCTN1, DJ1, DNAJC6, DNMT1, EIF4G1, FBXO7, GBA, GCH1, GIGYF2, GLUD2, GRN, HTRA2, LRRK2, MAPT, MPO, PARK2, PARK7, PINK1, PLA2G6, PRKAG2, PRKRA, PRNP, PSEN1, PSEN2, SLC30A10, SLC6A3, SNCA, SNCB, SPG7 (PGN), SYNJ1, TAF1, TBP, TH, TREM2, TYROBP, UCHL1, VPS13C, VPS35, C9ORF72, CHCHD10, CHMP2B, FUS, HNRNPA1, HNRNPA2B1, ITM2B, MATR3, NOTCH3, OPTN, PRKAR1B, SIGMAR1, SQSTM1, TARDBP, TBK1, TOMM40, TUBA4A, UBQLN2, VCP |
|
Demências |
Painel por Sequenciamento de Próxima Geração |
A2M, ABCD1, ACE, APBB2, APOE, APP, ARSA, ATP13A2, ATP1A3, ATP7B, BIN1, BLMH, C9ORF72, CD2AP, CD33, CHCHD10, CHMP2B, CLU, CR1, CSF1R, CST3, CYP27A1, DCTN1, DNAJC6, DNMT1, EIF4G1, EPHA1, FBXO7, FTL, FUS, GALC, GBA, GCDH, GCH1, GFAP, GLA, GRN, HEXA, HFE, HNRNPA1, HNRNPA2B1, HSD17B10, HTRA2, ITM2B, LMNB1, LRRK2, MAPK10, MAPT, MATR3, MLYCD, MPO, MS4A2, MS4A6, MS4A6E, NOS3, NOTCH3, NPC1, NPC2, OPTN, PANK2, PARK2, PARK7, PINK1, PLA2G6, PLAU, PNKD, POLG, PPT1, PRKRA, PRKAR1B, PRNP, PRRT2, PSAP, PSEN1, PSEN2, SIGMAR1, SGCE, SLC2A1, SLC6A3, SNCA, SNCB, SORL1, SPG11, SPG21, SPR, SQSTM1, TARDBP, TBK1, TBP, TH, THAP1, TOMM40, TOR1A, TREM2, TUBA4A, TYROBP, UBQLN2, UCHL1, VCP, VPS35 |
|
Paraplegia Espástica |
Painel por Sequenciamento de Próxima Geração |
ALDH18A1, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ATL1, ATP13A2, B4GALNT1, BSCL2, C12ORF65, C19ORF12, CAPN1, CCT5, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FARS2, GBA2, GJC2, HACE1, HSPD1, IBA57, KIF1A, KIF5A, KLC2, L1CAM, MAG, NIPA1, NT5C2, PLP1, PNPLA6, REEP1, REEP2, RTN2, SLC33A1, SPAST, SPG11, SPG20, SPG7, TECPR2, TFG, UCHL1, VPS37A, WASHC5, ZFYVE26, ZFYVE27, BICD2, SOX10, KLC4 |
|
tipo 6, Parkinson |
Análise de Deleção/Duplicação |
ATP13A2, GCH1, LRRK2, PARK2, PARK7, PINK1, SNCA, UCHL1 |
|
Parkinson Hereditario |
Painel por Sequenciamento de Próxima Geração |
A2M, AAAS, ABCD1, ACE, ACMSD, ADH1C, APOE, APP, ARSA, ATP13A2, ATP1A3, ATP7B, ATXN2, CHCHD2, CHMP2B, CSF1R, CYP27A1, DCTN1, DNAJC13, DNAJC6, DNMT1, EIF4G1, FBXO7, FUS, GALC, GBA, GCH1, GFAP, GIGYF2, GLA, GLUD2, GRN, HEXA, HTRA2, ITM2B, LMNB1, LRRK2, MAPT, MPO, NOTCH3, NPC1, NPC2, PANK2, PARK7 (DJ1), PINK1, PLA2G6, PNKD, PODXL, POLG, PPT1, PRKAG2, PRKN (PARK2), PRKRA, PRNP, PRRT2, PSAP, PSEN1, PSEN2, PTRHD1, RAB39B, RIC3, SGCE, SLC2A1, SLC30A10, SLC6A3, SNCA, SNCB, SPG11, SPR, SQSTM1, SYNJ1, TAF1, TARDBP, TBP, TH, THAP1, TMEM230, TOR1A, TREM2, TYROBP, UBQLN2, UCHL1, VCP, VPS13C, VPS35 |
