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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 |
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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 |
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Leucodistrofia Metacromatica |
Análise de Mutação - Pré Natal |
ARSA, PSAP |
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Leucodistrofia e Leucoencefalopatia |
Painel por Sequenciamento de Próxima Geração |
AARS, AARS2, ABAT, ABCD1, ACOX1, ADAR, AIMP1, ALDH3A2, ARSA, ASPA, AUH, B3GALNT2, BCAP31, BOLA3, C11ORF73, CLCN2, CLN6, COL4A1, CSF1R, CTC1, CYP27A1, DAG1, DARS, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, FBXL4, FOLR1, GALC, GBE1, GCDH, GFAP, GJC2, GLRX5, HEPACAM, HIKESHI, HSD17B4, HSPD1, HTRA1, IFIH1, ISCA2, L2HGDH, LAMB1, LIAS, LMNB1, MARS2, MLC1, MRPS22, NADK2, NOTCH3, PC, PEX1, PLEKHG2, PLP1, POLR1C, POLR3A, POLR3B, PSAP, PYCR2, RARS, RNASEH2A, RNASEH2C, RNASET2, RPIA, SAMHD1, SCP2, SDHA, SDHAF1, SDHD, SLC16A2, SLC17A5, SLC25A12, SOX10, SUMF1, TBCK, TMEM70, TREM2, TREX1, TUBB4A, TUFM, TYMP, TYROBP, UGT1A1, VPS11 |
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Leucodistrofia, Painel Expandido |
Painel por Sequenciamento de Próxima Geração |
ABCD1, ACOX1, ADAR, ALDH3A2, ARSA, ASPA, CSF1R, CYP27A1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FUCA1, GALC, GBE1, GFAP, GJA1, GJC2, HEPACAM, HSD17B4, L2HGDH, LAMA2, LMNB1, MLC1, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PLP1, POLR3A, POLR3B, PSAP, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SLC17A5, SOX10, SUMF1, TREX1, TUBB4A, VPS11 |
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Leucodistrofia Metacromática |
Sequenciamento Completo do Gene |
ARSA, PSAP |
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Leucodistrofia e Biogênese do Peroxissoma, Transtornos |
Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação |
ABCD1, AIMP1, ARSA, ASPA, BEST1, CSF1R, CYP27A1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, GALC, GFAP, GJC2, HEPACAM, HSD17B4, HSPD1, LMNB1, MLC1, NDUFV1, NOTCH3, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SDHA, SDHAF1, SLC16A2, SOX10, SUMF1, TREM2, TREX1, TYROBP |
