Broj gena
470
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Panel za ataksiju uključuje gene povezane sa ranim i kasnim tipovima ataksije. Analiza ponovljenih sekvenci (repeat expansion) nije uključena u ovaj panel. Ako postoji klinička sumnja na oblik ataksije uzrokovan ponovljenim sekvencama, preporučuje se verzija ovog panela pod nazivom Genome.
Geni
AAAS, AARS1, ABCA2, ABCB7, ABHD12, ACBD6, ACO2, ADCY5, ADGRG1, ADPRS, AFG3L2, AGTPBP1, AHI1, ALAS2, ALDH5A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, AMPD2, ANO10, AP1S2, APTX, ARL13B, ARL3, ARMC9, ARSA, ASL, ATAD3A, ATCAY, ATG7, ATM, ATN1, ATP1A2, ATP1A3, ATP2B3, ATP6AP1, ATP6V0A1, ATP6V0A2, ATP7B, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BBS1, BEAN1, BRF1, C2CD3, CA8, CACNA1A, CACNA1G, CACNA2D2, CAD, CAMTA1, CAPN1, CAPRIN1, CASK, CBY1, CC2D2A, CCDC88C, CDK5, CENPF, CEP104, CEP290, CEP41, CHMP1A, CHST14, CHST3, CHST6, CHSY1, CILK1, CLCN2, CLN5, CLN6, CLP1, CLPP, COA7, COASY, COG1, COG2, COG3, COG4, COG5, COG6, COG7, COG8, COQ4, COQ8A, COX20, CP, CPLANE1, CRB2, CRPPA, CSGALNACT1, CSPP1, CSTB, CTBP1, CWF19L1, CYP27A1, CYP2U1, DAG1, DAGLA, DARS2, DCC, DDHD2, DDOST, DDX59, DHCR7, DHDDS, DHRSX, DKC1, DLG4, DMXL2, DNAJC19, DNAJC3, DNAJC5, DNMT1, DOCK3, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYSL5, DYNC1H1, EBF3, EDEM3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EOGT, EPM2A, ERCC2, ERCC4, EVC, EVC2, EXOC3L2, EXOC8, EXOSC3, EXOSC5, EXOSC8, EXOSC9, EXT1, EXT2, FA2H, FAM149B1, FBXL4, FDXR, FGF14, FKRP, FKTN, FLVCR1, FMR1, FOLR1, FRMD4A, FRMD5, FTH1, FUT8, FXN, G6PC3, GALC, GALNT2, GALNT3, GBA2, GDAP2, GEMIN5, GFAP, GFPT1, GJC2, GLI3, GLRA1, GLRB, GLS, GMPPA, GMPPB, GNE, GORAB, GOSR2, GPAA1, GRID2, GRM1, GRN, GSN, HARS1, HEXA, HEXB, HMBS, HTT, HYLS1, IFT74, INPP5E, INTS11, IRF2BPL, ITPR1, KATNIP, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KCNN2, KCNQ2, KCNQ3, KIAA0586, KIAA0753, KIF14, KIF1A, KIF1C, KIF7, LAMA1, LARGE1, LARS2, LETM1, LFNG, LIG3, LNPK, MAG, MAGT1, MAN1B1, MAPK8IP3, MARS2, MFN2, MFSD8, MGAT2, MINPP1, MKS1, MMACHC, MME, MOGS, MORC2, MPDU1, MPI, MRE11, MSTO1, MT-ATP6, MTCL1, MTFMT, MTPAP, MTTP, MVK, NAA60, NAGLU, NAXE, NFASC, NGLY1, NHLRC1, NKX2-1, NKX6-2, NOP56, NPC1, NPC2, NPHP1, NPHP3, NPTX1, NUS1, OFD1, OGDHL, OPA1, OPA3, OPHN1, PACS2, PAX2, PAX6, PCLO, PDE6D, PDYN, PEX16, PEX2, PEX6, PGAP2, PGAP3, PGM1, PGM3, PHGDH, PI4KA, PIBF1, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PITRM1, PLA2G6, PMM2, PMPCA, PMPCB, PNKD, PNKP, PNPLA6, PNPT1, POC1B, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU4F1, PPP2R2B, PRDM13, PRDX3, PRICKLE1, PRKCG, PRNP, PRPS1, PRRT2, PTF1A, PTRH2, PUM1, RARS2, RELN, RFC1, RFT1, RFXANK, RNF170, RNF216, RNF220, ROBO3, RORA, RPGRIP1L, RXYLT1, SACS, SAMD9L, SAR1B, SCLT1, SCN1A, SCN2A, SCN8A, SCN9A, SCYL1, SEC23B, SEPSECS, SETX, SIL1, SLC17A5, SLC1A3, SLC25A46, SLC2A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC44A1, SLC52A2, SLC6A5, SLC9A1, SLC9A6, SMPD4, SNAP25, SNX14, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STUB1, SUFU, SVBP, SYNE1, SYNGAP1, TANGO2, TAPT1, TBC1D23, TBC1D32, TBP, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TERT, TGM6, THAP11, THG1L, TINF2, TMEM106B, TMEM107, TMEM138, TMEM165, TMEM216, TMEM218, TMEM231, TMEM237, TMEM240, TMEM67, TOE1, TOGARAM1, TPP1, TRAPPC11, TRIP4, TSEN15, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TUBA1A, TUBA4A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUSC3, TWNK, TXNDC15, UBA5, UBTF, UCHL1, VAMP1, VLDLR, VMA12, VMA22, VPS13B, VPS13D, VPS41, VPS53, VRK1, WDR73, WDR81, WFS1, WWOX, XYLT1, XYLT2, ZFHX3, ZFYVE26, ZNF423, ZSWIM6