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Doenças Cardíacas |
Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação |
ACTA2, ACTC1, APOB, COL3A1, DSC2, DSG2, DSP, FBN1, GLA, KCNH2, KCNQ1, LDLR, LMNA, MYBPC3, MYH7, MYH11, MYL2, MYL3, PCSK9, PKP2, PRKAG2, RYR2, SCN5A, SMAD3, TGFBR1, TGFBR2, TMEM43, TNNI3, TNNT2, TPM1 |
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Ataxias |
Painel por Sequenciamento de Próxima Geração |
ABHD12, ACO2, AFG3L2, ANO10, APOB, APTX, ATCAY, ATM, ATP8A2, BEAN1, CACNA1A, CACNA1G, CACNB4, CCDC88C, CLCN2, CLN5, COQ2, COQ8A, CYP27A1, DNMT1, ELOVL4, FGF14, FLVCR1, FXN, GOSR2, GRM1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, LAMA1, MRE11, MTTP, NOP56, NPC1, NPC2, PDSS1, PDSS2, PDYN, PEX7, PHYH, PMPCA, PNKP, PNPLA6, POLG, PRKCG, PTF1A, RUBCN, SACS, SCN2A, SETX, SIL1, SLC1A3, SPG7, SPTBN2, SYNE1, SYT14, TDP1, TGM6, TPP1, TTBK2, TTPA, TWNK, TXN2, VLDLR, WDR73, WFS1, WWOX |
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Ataxia Espinocerebelar |
Painel por Sequenciamento de Próxima Geração |
SLC52A2, COG5, SLC25A46, KCNC1, FAT2, PLD3, SCYL1, UBA5, KIF26B, EP300, FAT1, XRCC1, VPS13D, FA2H, AAAS, ABCB7, ABHD5, ABHD12, ACADVL, ACO2, ADCK3, AFG3L2, AMPD2, ANO10, AP1S2, APOB, APTX, ARSA, ATCAY, ATM, ATN1, ATP1A3, ATP8A2, ATP2B3, C10ORF2, CA8, CACNA1G, CACNB4, CAMTA1, CASK, CCDC88C, CHMP1A, CLCN2, CLN5, CLN6, COQ2, COX20, CP, CWF19L1, CYP27A1, CYP2U1, DARS2, DDHD2, DNAJC5, DNMT1, DRD3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EPM2A, EXOSC3, FGF14, FLVCR1, FMR1, FOLR1, FUS, FXN, GBA2, GFAP, GJC2, GOS, GOSR2, GRID2, GRM1, HEXA, HEXB, IFRD1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1C, LAMA1, MARS2, MMACHC, MRE11A, MTPAP, MTTP, NHLRC1, NPC1, NPC2, OPHN1, PAX6, PDSS1, PDSS2, PDYN, PEX7, PEX16, PHYH, PLA2G6, PMPCA, PNKP, PNPLA6, POLG, POLR3A, PRKCG, PRNP, PRRT2, PTF1A, RARS2, RUBCN, RNF170, RNF216, SACS, SAR1B, SCN2A, SEPSECS, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SNX14, SPG7, SPTBN2, SRD5A3, STUB1, SYNE1, SYT14, TDP1, TGM6, TENM4, TMEM240, TPP1, TSEN2, TSEN54, TTBK2, TTC19, TTPA, TUBB4A, T |
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Hipercolesterolemia |
Sequenciamento Completo do Gene |
APOB, LDLR, LDLRAP1, PCSK9 |
