Ataxie

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Ataxie

AAAS, ABCB7, ABCD1, ABHD12, ACBD6, ACO2, ADCY5, ADGRG1, ADPRS, AFG3L2, AGTPBP1, AHI1, AIMP1, ALAS2, ALDH18A1, ALDH3A2, ALDH5A1, ALG1, ALG11, ALG12, ALG14, ALG3, ALG6, ALG8, ALG9, ALS2, AMACR, AMPD2, AMT, ANG, ANO10, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, ARG1, ARL13B, ARL3, ARL6IP1, ARMC9, ARSA, ARSI, ARX, ASL, ATAD3A, ATCAY, ATG7, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B2, ATP2B3, ATP2B4, ATP6AP1, ATP6V0A1, ATP6V0A2, ATP7B, ATP8A2, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BBS1, BEAN1, BICD2, BRF1, BSCL2, BTD, C19orf12, C2CD3, CA8, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAD, CAMTA1, CAPN1, CASK, CBY1, CC2D2A, CCDC88C, CCT5, CENPF, CEP104, CEP120, CEP290, CEP41, CILK1, CLCN2, CLN5, CLN6, CLN8, CLP1, COA7, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ8A, COX20, CP, CPLANE1, CPT1C, CRB2, CRPPA, CSF1R, CSGALNACT1, CSPP1, CSTB, CTBP1, CTDP1, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAB1, DAGLA, DARS1, DARS2, DDB2, DDHD1, DDHD2, DDOST, DDX59, DHCR7, DHDDS, DHRSX, DKC1, DLAT, DLG4, DNAJC19, DNAJC3, DNAJC5, DNM2, DNMT1, DOCK3, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYSL5, DSTYK, EBF3, EDEM3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, ENTPD1, EOGT, EPM2A, ERCC2, ERCC3, ERCC4, ERCC5, ERLIN1, ERLIN2, ETFA, ETFB, ETFDH, EVC, EVC2, EXOC3L2, EXOSC3, EXOSC8, EXOSC9, EXT1, EXT2, FA2H, FAM149B1, FARS2, FBXL4, FBXO7, FCSK, FDXR, FEM1C, FGF14, FIG4, FKRP, FKTN, FLRT1, FLVCR1, FOLR1, FRMD5, FUS, FUT8, FXN, G6PC3, GAD1, GALC, GALNT2, GALNT3, GAN, GARS1, GBA1, GBA2, GBE1, GCDH, GCLC, GCSH, GEMIN5, GFAP, GFPT1, GCH1, GJB1, GJC2, GLB1, GLDC, GLI3, GLRA1, GLRB, GLRX5, GLTP, GM2A, GMPPA, GMPPB, GNB1, GNE, GORAB, GOSR2, GPAA1, GPT2, GRID2, GRM1, GRN, HACE1, HEPACAM, HERC1, HEXA, HEXB, HMBS, HPRT1, HSD17B4, HSPD1, HTRA1, HYCC1, HYLS1, CHMP1A, CHST14, CHST3, CHST6, CHSY1, IBA57, IFIH1, IFRD1, IFT74, IGDCC3, INPP5E, INPP5K, INTS11, IRF2BPL, ITM2B, ITPR1, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCNN2, KCNQ2, KIAA0586, KIAA0753, KIDINS220, KIF1A, KIF1C, KIF5A, KIF5C, KIF7, KLC2, KLC4, KY, L1CAM, L2HGDH, LAMA1, LARGE1, LARS2, LETM1, LFNG, LYST, MAG, MAGT1, MAN1B1, MAN2B1, MAPK8IP3, MARS1, MARS2, MFN2, MFSD8, MGAT2, MINPP1, MKS1, MLC1, MMACHC, MME, MOGS, MORC2, MPDU1, MPI, MRE11, MSTO1, MT-ATP6, MTCL1, MTFMT, MTPAP, MTRFR, MTRR, MTTP, MVK, NAA60, NARS2, NAXE, NDUFS7, NEU1, NFASC, NGLY1, NHLRC1, NIPA1, NKX2-1, NKX6-2, NOL3, NPC1, NPC2, NPHP1, NPHP3, NPTX1, NT5C2, NUBPL, NUS1, OFD1, OGDHL, OPA1, OPA3, OPHN1, OPTN, PACS2, PANK2, PAX6, PCNA, PCYT2, PDE6D, PDHX, PDSS1, PDSS2, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PHYH, PI4KA, PIBF1, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PIK3R5, PITRM1, PLA2G6, PLEKHG4, PLP1, PMM2, PMPCA, PMPCB, PNKD, PNKP, PNPLA6, PNPT1, POLG, POLH, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU4F1, PPT1, PRDM13, PRDX3, PRICKLE1, PRKCG, PRNP, PRPS1, PRRT2, PTF1A, PTRH2, PUM1, RAB3A, RAB3GAP2, RARS2, REEP1, REEP2, RELN, RETREG1, RFC1, RFT1, RNASEH2B, RNASET2, RNF168, RNF170, RNF216, RNF220, ROBO3, RORA, RPGRIP1L, RRM2B, RTN2, RUBCN, RXYLT1, SACS, SAMD9L, SCLT1, SCN1A, SCN2A, SCN8A, SCYL1, SEC16A, SEC23B, SELENOI, SEPSECS, SERAC1, SETX, SIL1, SKOR1, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC25A15, SLC25A46, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC44A1, SLC52A2, SLC9A1, SLC9A6, SMPD1, SNAP25, SNX14, SOD1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STUB1, SUFU, SUN1, SUN2, SYNE1, SYNGAP1, SYT14, TANGO2, TARDBP, TBC1D23, TBCC, TBCE, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TFG, TGM6, TH, THG1L, TINF2, TMEM107, TMEM138, TMEM165, TMEM216, TMEM218, TMEM231, TMEM237, TMEM240, TMEM67, TOE1, TOGARAM1, TPP1, TRAPPC11, TRPC3, TRPV4, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTPA, TUBA1A, TUBA4A, TUBB2B, TUBB3, TUBB4A, TUSC3, TWNK, TXNDC15, UBA5, UBAP1, UBQLN2, UBTF, UCHL1, USP8, VAMP1, VAPB, VARS2, VCP, VLDLR, VMA12, VMA22, VPS13A, VPS13B, VPS13D, VPS37A, VPS41, VPS53, VRK1, WASHC5, WDR45, WDR48, WDR73, WDR81, WFS1, WWOX, XPA, XPC, XRCC1, XYLT1, XYLT2, ZFR, ZFYVE26, ZFYVE27, ZNF423, ZNF592, ZSWIM6

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GÉN / VARIANT / LOKUS
AAAS, ABCB7, ABCD1, ABHD12, ACBD6, ACO2, ADCY5, ADGRG1, ADPRS, AFG3L2, AGTPBP1, AHI1, AIMP1, ALAS2, ALDH18A1, ALDH3A2, ALDH5A1, ALG1, ALG11, ALG12, ALG14, ALG3, ALG6, ALG8, ALG9, ALS2, AMACR, AMPD2, AMT, ANG, ANO10, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, ARG1, ARL13B, ARL3, ARL6IP1, ARMC9, ARSA, ARSI, ARX, ASL, ATAD3A, ATCAY, ATG7, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B2, ATP2B3, ATP2B4, ATP6AP1, ATP6V0A1, ATP6V0A2, ATP7B, ATP8A2, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BBS1, BEAN1, BICD2, BRF1, BSCL2, BTD, C19orf12, C2CD3, CA8, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAD, CAMTA1, CAPN1, CASK, CBY1, CC2D2A, CCDC88C, CCT5, CENPF, CEP104, CEP120, CEP290, CEP41, CILK1, CLCN2, CLN5, CLN6, CLN8, CLP1, COA7, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ8A, COX20, CP, CPLANE1, CPT1C, CRB2, CRPPA, CSF1R, CSGALNACT1, CSPP1, CSTB, CTBP1, CTDP1, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAB1, DAGLA, DARS1, DARS2, DDB2, DDHD1, DDHD2, DDOST, DDX59, DHCR7, DHDDS, DHRSX, DKC1, DLAT, DLG4, DNAJC19, DNAJC3, DNAJC5, DNM2, DNMT1, DOCK3, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYSL5, DSTYK, EBF3, EDEM3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, ENTPD1, EOGT, EPM2A, ERCC2, ERCC3, ERCC4, ERCC5, ERLIN1, ERLIN2, ETFA, ETFB, ETFDH, EVC, EVC2, EXOC3L2, EXOSC3, EXOSC8, EXOSC9, EXT1, EXT2, FA2H, FAM149B1, FARS2, FBXL4, FBXO7, FCSK, FDXR, FEM1C, FGF14, FIG4, FKRP, FKTN, FLRT1, FLVCR1, FOLR1, FRMD5, FUS, FUT8, FXN, G6PC3, GAD1, GALC, GALNT2, GALNT3, GAN, GARS1, GBA1, GBA2, GBE1, GCDH, GCLC, GCSH, GEMIN5, GFAP, GFPT1, GCH1, GJB1, GJC2, GLB1, GLDC, GLI3, GLRA1, GLRB, GLRX5, GLTP, GM2A, GMPPA, GMPPB, GNB1, GNE, GORAB, GOSR2, GPAA1, GPT2, GRID2, GRM1, GRN, HACE1, HEPACAM, HERC1, HEXA, HEXB, HMBS, HPRT1, HSD17B4, HSPD1, HTRA1, HYCC1, HYLS1, CHMP1A, CHST14, CHST3, CHST6, CHSY1, IBA57, IFIH1, IFRD1, IFT74, IGDCC3, INPP5E, INPP5K, INTS11, IRF2BPL, ITM2B, ITPR1, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCNN2, KCNQ2, KIAA0586, KIAA0753, KIDINS220, KIF1A, KIF1C, KIF5A, KIF5C, KIF7, KLC2, KLC4, KY, L1CAM, L2HGDH, LAMA1, LARGE1, LARS2, LETM1, LFNG, LYST, MAG, MAGT1, MAN1B1, MAN2B1, MAPK8IP3, MARS1, MARS2, MFN2, MFSD8, MGAT2, MINPP1, MKS1, MLC1, MMACHC, MME, MOGS, MORC2, MPDU1, MPI, MRE11, MSTO1, MT-ATP6, MTCL1, MTFMT, MTPAP, MTRFR, MTRR, MTTP, MVK, NAA60, NARS2, NAXE, NDUFS7, NEU1, NFASC, NGLY1, NHLRC1, NIPA1, NKX2-1, NKX6-2, NOL3, NPC1, NPC2, NPHP1, NPHP3, NPTX1, NT5C2, NUBPL, NUS1, OFD1, OGDHL, OPA1, OPA3, OPHN1, OPTN, PACS2, PANK2, PAX6, PCNA, PCYT2, PDE6D, PDHX, PDSS1, PDSS2, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PHYH, PI4KA, PIBF1, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PIK3R5, PITRM1, PLA2G6, PLEKHG4, PLP1, PMM2, PMPCA, PMPCB, PNKD, PNKP, PNPLA6, PNPT1, POLG, POLH, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU4F1, PPT1, PRDM13, PRDX3, PRICKLE1, PRKCG, PRNP, PRPS1, PRRT2, PTF1A, PTRH2, PUM1, RAB3A, RAB3GAP2, RARS2, REEP1, REEP2, RELN, RETREG1, RFC1, RFT1, RNASEH2B, RNASET2, RNF168, RNF170, RNF216, RNF220, ROBO3, RORA, RPGRIP1L, RRM2B, RTN2, RUBCN, RXYLT1, SACS, SAMD9L, SCLT1, SCN1A, SCN2A, SCN8A, SCYL1, SEC16A, SEC23B, SELENOI, SEPSECS, SERAC1, SETX, SIL1, SKOR1, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC25A15, SLC25A46, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC44A1, SLC52A2, SLC9A1, SLC9A6, SMPD1, SNAP25, SNX14, SOD1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STUB1, SUFU, SUN1, SUN2, SYNE1, SYNGAP1, SYT14, TANGO2, TARDBP, TBC1D23, TBCC, TBCE, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TFG, TGM6, TH, THG1L, TINF2, TMEM107, TMEM138, TMEM165, TMEM216, TMEM218, TMEM231, TMEM237, TMEM240, TMEM67, TOE1, TOGARAM1, TPP1, TRAPPC11, TRPC3, TRPV4, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTPA, TUBA1A, TUBA4A, TUBB2B, TUBB3, TUBB4A, TUSC3, TWNK, TXNDC15, UBA5, UBAP1, UBQLN2, UBTF, UCHL1, USP8, VAMP1, VAPB, VARS2, VCP, VLDLR, VMA12, VMA22, VPS13A, VPS13B, VPS13D, VPS37A, VPS41, VPS53, VRK1, WASHC5, WDR45, WDR48, WDR73, WDR81, WFS1, WWOX, XPA, XPC, XRCC1, XYLT1, XYLT2, ZFR, ZFYVE26, ZFYVE27, ZNF423, ZNF592, ZSWIM6
  • METODOLÓGIA
    NGS
  • TAT (DNI)
    365 kalendárnych dní
  • OMIM KÓD
    (GÉN/LOKUS)
  • OMIM KÓD
    (FENOTYP)
  • Dg. (MKCH)
  • RefSNP ID
POŽIADAVAKY NA VZORKU
Druh vzorky Objem/Koncentrácia1 Odberový materiál Teplota transportu Viabilita vzorky (dni/hodiny)2
Periférna krv ≥ 3 ml K3/K2 EDTA RT 5 - 10
Periférna krv 1 ml K3/K2 EDTA - novorodenci RT 5 - 10

1 V prípade, ak nie je možné odobrať / poslať dostatočné množstvo vzorky, prosím kontaktujte laboratórium genetiky Unilabs.

2 Predstavuje maximálny počet dní pre transport vzorky pri zachovaní požadovanej kvality.