Ataxia and Cerebellar Anomalies Panel (249 Genes)
| TEST CODE | |
| TEST NAME | Ataxia and Cerebellar Anomalies Panel (249 Genes) |
| RELATED GENE | AAAS, ABCB7, ABHD12, ADGRG1, AFG3L2, AHI1, ALG1, ALG11, ALG12, ALG3, ALG6, ALG8, ALG9, AMPD2, ANO10, AP1S1, APTX, ARL13B, ARMC9, ARSA, ATCAY, ATM, ATP1A3, ATP6AP1, ATP6V0A2, ATXN2, ATXN7, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, B9D2, C2CD3, CA8, CACNA1A, CACNA1G, CAMTA1, CASK, CC2D2A, CCDC115, CENPF, CEP104, CEP290, CEP41, CHMP1A, CHST14, CHST3, CHST6, CHSY1, CLCN2, CLN6, COG1, COG4, COG5, COG6, COG7, COG8, COQ8A, COX20, CP, CPLANE1, CRB2, CRPPA, CSPP1, CSTB, CTBP1, CWF19L1, CYP27A1, CYP2U1, DARS2, DDHD2, DDX59, DHCR7, DKC1, DNAJC19, DNAJC5, DNMT1, DOLK, DPAGT1, DPM1, DPM3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EPM2A, EVC, EVC2, EXOSC3, EXT1, EXT2, FGF14, FKRP, FKTN, FLVCR1, FMR1, FOLR1, FUT8, FXN, GALNT3, GBA2, GFAP, GFPT1, GJC2, GLI3, GMPPB, GNE, GOSR2, GPAA1, GRID2, GRM1, HEXA, HEXB, HYLS1, ICK, INPP5E, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0586, KIAA0753, KIF1C, KIF7, LARGE1, MAN1B1, MARS2, MGAT2, MKS1, MMACHC, MOGS, MORC2, MPDU1, MPI, MRE11, MT-ATP6, MTTP, NGLY1, NHLRC1, NKX6-2, NPC1, NPC2, NPHP1, NPHP3, OFD1, OPA3, OPHN1, PAX6, PDYN, PEX16, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PLA2G6, PMM2, PMPCA, PNKP, PNPLA6, POLG, POLR3A, POMGNT1, POMGNT2, POMT1, POMT2, PRKCG, PRNP, PRRT2, PTF1A, RARS2, RELN, RFT1, RNF170, RNF216, ROBO3, RPGRIP1L, RXYLT1, SACS, SAR1B, SCLT1, SEC23B, SEPSECS, SETX, SIL1, SLC1A3, SLC2A1, SLC35A1, SLC35C1, SLC35D1, SLC39A8, SLC9A6, SNX14, SPG7, SPTBN2, SRD5A3, SSR4, ST3GAL5, STUB1, SYNE1, TCTN1, TCTN2, TCTN3, TGM6, TINF2, TMEM107, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TOE1, TPP1, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TUBA1A, TUBB2B, TUBB3, TUBB4A, TUSC3, TWNK, TXNDC15, VLDLR, VPS13B, VPS13D, VRK1, WDR73, WDR81, WFS1, WWOX, XYLT1, XYLT2, ZSWIM6 |
| SYNONYMOUS | AAAS, ABCB7, ABHD12, ADGRG1, AFG3L2, AHI1, ALG1, ALG11, ALG12, ALG3, ALG6, ALG8, ALG9, AMPD2, ANO10, AP1S1, APTX, ARL13B, ARMC9, ARSA, ATCAY, ATM, ATP1A3, ATP6AP1, ATP6V0A2, ATXN2, ATXN7, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, B9D2, C2CD3, CA8, CACNA1A, CACNA1G, CAMTA1, CASK, CC2D2A, CCDC115, CENPF, CEP104, CEP290, CEP41, CHMP1A, CHST14, CHST3, CHST6, CHSY1, CLCN2, CLN6, COG1, COG4, COG5, COG6, COG7, COG8, COQ8A, COX20, CP, CPLANE1, CRB2, CRPPA, CSPP1, CSTB, CTBP1, CWF19L1, CYP27A1, CYP2U1, DARS2, DDHD2, DDX59, DHCR7, DKC1, DNAJC19, DNAJC5, DNMT1, DOLK, DPAGT1, DPM1, DPM3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EPM2A, EVC, EVC2, EXOSC3, EXT1, EXT2, FGF14, FKRP, FKTN, FLVCR1, FMR1, FOLR1, FUT8, FXN, GALNT3, GBA2, GFAP, GFPT1, GJC2, GLI3, GMPPB, GNE, GOSR2, GPAA1, GRID2, GRM1, HEXA, HEXB, HYLS1, ICK, INPP5E, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0586, KIAA0753, KIF1C, KIF7, LARGE1, MAN1B1, MARS2, MGAT2, MKS1, MMACHC, MOGS, MORC2, MPDU1, MPI, MRE11, MT-ATP6, MTTP, NGLY1, NHLRC1, NKX6-2, NPC1, NPC2, NPHP1, NPHP3, OFD1, OPA3, OPHN1, PAX6, PDYN, PEX16, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PLA2G6, PMM2, PMPCA, PNKP, PNPLA6, POLG, POLR3A, POMGNT1, POMGNT2, POMT1, POMT2, PRKCG, PRNP, PRRT2, PTF1A, RARS2, RELN, RFT1, RNF170, RNF216, ROBO3, RPGRIP1L, RXYLT1, SACS, SAR1B, SCLT1, SEC23B, SEPSECS, SETX, SIL1, SLC1A3, SLC2A1, SLC35A1, SLC35C1, SLC35D1, SLC39A8, SLC9A6, SNX14, SPG7, SPTBN2, SRD5A3, SSR4, ST3GAL5, STUB1, SYNE1, TCTN1, TCTN2, TCTN3, TGM6, TINF2, TMEM107, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TOE1, TPP1, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TUBA1A, TUBB2B, TUBB3, TUBB4A, TUSC3, TWNK, TXNDC15, VLDLR, VPS13B, VPS13D, VRK1, WDR73, WDR81, WFS1, WWOX, XYLT1, XYLT2, ZSWIM6 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 ml |
| TAT | 40 DAYS |
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