Broj gena
1168
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Panel za poremećaje kretanja i spastičnost Genome uključuje gene povezane sa poremećajima kao što su ataksija, nasljedna spastična paraplegija, hiperkinetički poremećaji kretanja i Parkinsonova bolest. Ovaj panel uključuje analizu ekspanzije ponavljanja za gene ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, C9orf72, CACNA1A, CSTB, DMPK, FMR1, FXN, HTT, JPH3, NOP56, PPP2R2B, PRNP, TBP, kao i GBA1 analizu konverzije.
Geni
AAAS, AARS1, AARS2, AASS, ABAT, ABCA1, ABCA2, ABCB11, ABCB4, ABCB7, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD16A, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACBD6, ACER3, ACO2, ACOX1, ACSF3, ACTB, ACY1, ADA, ADAR, ADCY5, ADGRG1, ADPRS, ADSL, AFG2B, AFG3L2, AGA, AGK, AGL, AGPS, AGTPBP1, AGXT, AHI1, AIFM1, AIMP1, AKR1D1, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALK, ALMS1, ALPL, ALS2, AMACR, AMFR, AMN, AMPD2, AMT, ANKS6, ANO10, ANO3, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1, APOA5, APOB, APOC2, APOE, APRT, APTX, ARG1, ARL13B, ARL3, ARL6, ARL6IP1, ARMC9, ARSA, ARSB, ARSL, ARX, ASAH1, ASL, ASPA, ASS1, ATAD3A, ATCAY, ATG7, ATIC, ATL1, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP5MC3, ATP6AP1, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP7A, ATP7B, ATP8A2, ATP8B1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAS3, BCKDHA, BCKDHB, BCKDK, BCS1L, BEAN1, BICD2, BLOC1S1, BOLA3, BORCS8, BRF1, BSCL2, BTD, C19orf12, C1QBP, C2CD3, C9orf72, CA5A, CA8, CACNA1A, CACNA1G, CACNA2D2, CAD, CAMTA1, CAPN1, CAPRIN1, CASK, CAT, CBS, CBY1, CC2D2A, CCDC88C, CDK5, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP410, CFAP43, CHCHD10, CHCHD2, CHKB, CHMP1A, CHMP2B, CHST14, CHST3, CHST6, CHSY1, CILK1, CISD2, CIZ1, CLCN2, CLDN11, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CNNM2, COA3, COA6, COA7, COA8, COASY, COG1, COG2, COG3, COG4, COG5, COG6, COG7, COG8, COL6A3, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX15, COX20, COX6A1, COX6B1, COX7B, COXFA4, CP, CPLANE1, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRB2, CRPPA, CSF1R, CSGALNACT1, CSPP1, CSTB, CTBP1, CTH, CTNNB1, CTNS, CTSA, CTSC, CTSD, CTSK, CUBN, CWF19L1, CYC1, CYCS, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DAGLA, DARS1, DARS2, DBH, DBT, DCAF17, DCC, DCDC2, DCTN1, DCXR, DDC, DDHD1, DDHD2, DDOST, DDX3X, DDX59, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHODH, DHRSX, DHTKD1, DKC1, DLAT, DLD, DLG4, DMPK, DMXL2, DNA2, DNAH1, DNAJC12, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNM1L, DNMT1, DOCK3, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DPYSL5, DSTYK, DYM, DYNC1H1, DYNC2H1, DYNC2I2, DYNC2LI1, DYNLT2B, EARS2, EBF3, EBP, ECHS1, EDEM3, EEF2, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELAC2, ELOVL1, ELOVL4, ELOVL5, ENO3, ENTPD1, EOGT, EPG5, EPM2A, ERCC2, ERCC4, ERCC6, ERLIN1, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOC3L2, EXOC8, EXOSC3, EXOSC5, EXOSC8, EXOSC9, EXT1, EXT2, FA2H, FAH, FAM149B1, FAR1, FARS2, FASTKD2, FBP1, FBXL4, FBXO7, FDXR, FECH, FGF14, FGFR2, FH, FITM2, FKRP, FKTN, FLAD1, FLVCR1, FMO3, FMR1, FOLR1, FOXG1, FOXP2, FOXRED1, FRMD4A, FRMD5, FTCD, FTH1, FTL, FUCA1, FUT8, FXN, G6PC1, G6PC3, GAA, GABRA1, GABRG2, GAD1, GALC, GALE, GALK1, GALNS, GALNT2, GALNT3, GALT, GAMT, GARS1, GATM, GBA1, GBA2, GBE1, GCDH, GCH1, GCLC, GDAP1, GDAP2, GEMIN5, GFAP, GFER, GFM1, GFPT1, GIGYF2, GJA1, GJC2, GK, GLA, GLB1, GLDC, GLI3, GLIS2, GLRA1, GLRB, GLRX5, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAL, GNAO1, GNB1, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GOSR2, GPAA1, GPD1, GPHN, GPT2, GRHPR, GRID2, GRIN1, GRM1, GRN, GSN, GSS, GTPBP2, GTPBP3, GUSB, GYG1, GYS1, GYS2, HAAO, HACE1, HADH, HADHA, HADHB, HAMP, HARS1, HCCS, HCFC1, HECTD4, HECW2, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HIKESHI, HJV, HLCS, HMBS, HMGCL, HMGCS2, HNF1B, HNRNPH1, HOGA1, HPCA, HPD, HPDL, HPRT1, HPS1, HSD17B10, HSD17B4, HSD3B7, HSPD1, HTRA2, HTT, HYAL1, HYLS1, IARS2, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, INPP5E, INTS11, INVS, IQCB1, IRF2BPL, ISCU, ISG15, ITPA, ITPR1, ITSN1, IVD, JPH3, KARS1, KATNIP, KCNA1, KCNA2, KCNC1, KCNC3, KCND3, KCNJ10, KCNMA1, KCNN2, KCNQ2, KCNQ3, KCTD17, KCTD7, KDM5C, KIAA0586, KIAA0753, KIDINS220, KIF14, KIF1A, KIF1C, KIF5A, KIF7, KMT2B, KPNA3, KYNU, L1CAM, L2HGDH, LAMA1, LAMP2, LARGE1, LARS2, LBR, LCAT, LCT, LDHA, LDLR, LDLRAP1, LETM1, LFNG, LIAS, LIG3, LIPA, LIPC, LIPT1, LMBRD1, LNPK, LONP1, LPIN1, LPL, LRPPRC, LRRK2, LYST, LZTFL1, MAG, MAGT1, MAL, MAN1B1, MAN2B1, MANBA, MAOA, MAPK8IP3, MAPKBP1, MAPT, MARS1, MARS2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MECR, MED27, MFF, MFN2, MFSD8, MGAT2, MGME1, MINPP1, MKKS, MKS1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MME, MMUT, MOCS1, MOCS2, MOGS, MORC2, MPDU1, MPI, MPV17, MRE11, MRPL3, MRPS22, MRPS34, MSMO1, MSTO1, MT-ATP6, MT-ND1, MT-ND6, MT-TK, MTCL1, MTFMT, MTHFR, MTO1, MTPAP, MTR, MTRFR, MTRR, MTTP, MVK, MYORG, NAA60, NAGA, NAGLU, NAGS, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEK1, NEK8, NEU1, NFASC, NFU1, NGLY1, NHLRC1, NIPA1, NKX2-1, NKX6-2, NOP56, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPTX1, NR4A2, NRCAM, NSDHL, NSRP1, NT5C2, NT5C3A, NUBPL, NUP62, NUS1, OAT, OCLN, OCRL, OFD1, OGDHL, OPA1, OPA3, OPHN1, OPLAH, OTC, OXCT1, PACS2, PAH, PANK2, PARK7, PARS2, PAX2, PAX6, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH19, PCK1, PCLO, PCSK9, PCYT2, PDE10A, PDE2A, PDE6D, PDE8B, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PDYN, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PI4KA, PIBF1, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PINK1, PITRM1, PITX3, PKD1, PKD2, PKHD1, PLA2G6, PLP1, PMM2, PMPCA, PMPCB, PNKD, PNKP, PNP, PNPLA6, PNPO, PNPT1, POC1B, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, POU4F1, PPA2, PPFIBP1, PPOX, PPP2R2B, PPP2R5D, PPT1, PRDM13, PRDX3, PRICKLE1, PRKAG2, PRKCG, PRKN, PRKRA, PRNP, PRODH, PRPS1, PRRT2, PSAP, PSAT1, PSEN1, PSPH, PTEN, PTF1A, PTRH2, PTRHD1, PTS, PUM1, PUS1, PYCR1, PYGL, PYGM, QDPR, RAB32, RAB39B, RAB3GAP2, RANBP2, RARS2, RBCK1, RBP4, REEP1, REEP2, RELN, RETREG1, RFC1, RFT1, RFXANK, RINT1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF170, RNF216, RNF220, RNU7-1, ROBO3, RORA, RPGRIP1L, RPIA, RPL10, RRM2B, RTN2, RXYLT1, RYR1, SACS, SAMD12, SAMD9L, SAMHD1, SAR1B, SARS2, SBDS, SC5D, SCLT1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SEPSECS, SERAC1, SETX, SGCE, SGSH, SHQ1, SI, SIL1, SKIC2, SKIC3, SLC12A3, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC30A9, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC44A1, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC6A19, SLC6A3, SLC6A5, SLC6A8, SLC7A7, SLC7A9, SLC9A1, SLC9A6, SMPD1, SMPD4, SNAP25, SNCA, SNCB, SNORD118, SNX14, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, SPTSSA, SQSTM1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STN1, STS, STT3A, STUB1, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SVBP, SYNE1, SYNGAP1, SYNJ1, SYT1, TACO1, TAF1, TAF8, TAFAZZIN, TALDO1, TANGO2, TAPT1, TARS2, TAT, TBC1D23, TBC1D24, TBC1D32, TBK1, TBP, TCN2, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TENM4, TERT, TFG, TFR2, TGM6, TH, THAP1, THAP11, THG1L, TIMM50, TIMM8A, TINF2, TK2, TMEM106B, TMEM107, TMEM126B, TMEM138, TMEM151A, TMEM165, TMEM216, TMEM218, TMEM230, TMEM231, TMEM237, TMEM240, TMEM63C, TMEM67, TMEM70, TOE1, TOGARAM1, TOR1A, TPK1, TPP1, TRAF3IP1, TRAPPC11, TREM2, TREX1, TRIM37, TRIP4, TRMU, TRNT1, TRPM6, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSPOAP1, TTBK2, TTC19, TTC21B, TTC8, TTPA, TUBA1A, TUBA4A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUFM, TUSC3, TWNK, TXNDC15, TYMP, UBA5, UBAP1, UBE3A, UBTF, UCHL1, UGT1A1, UMOD, UMPS, UQCRQ, UROC1, UROD, UROS, VAC14, VAMP1, VAMP2, VARS2, VIPAS39, VKORC1, VLDLR, VMA12, VMA22, VPS11, VPS13A, VPS13B, VPS13D, VPS16, VPS33B, VPS35, VPS41, VPS4A, VPS53, VRK1, WASHC5, WDPCP, WDR19, WDR35, WDR45, WDR45B, WDR73, WDR81, WFS1, WWOX, XDH, XK, XPNPEP3, XPR1, XYLT1, XYLT2, YARS2, YIF1B, YY1, ZEB2, ZFHX3, ZFYVE26, ZNF423, ZSWIM6