Movement diseases (WES based NGS panel of 929 genes, including CNV analysis)
AAAS, AARS2, AASS, ABAT, ABCA1, ABCB11, ABCB4, ABCB7, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACTB, ACY1, ADA, ADAR, ADCY5, ADGRG1, ADSL, AFG3L2, AGA, AGK, AGL, AGPS, AGXT, AHI1, AIFM1, AKR1D1, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, AMACR, AMN, AMPD2, AMT, ANKS6, ANO10, ANO3, AP1S2, APOA1, APOA5, APOB, APOC2, APOE, APOPT1, APRT, APTX, ARG1, ARL13B, ARL6, ARSA, ARSB, ARSE, ARX, ASAH1, ASL, ASPA, ASS1, ATAD3A, ATCAY, ATIC, ATM, ATP13A2, ATP1A2, ATP1A3, ATP6AP1, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8A2, ATP8B1, ATPAF2, ATXN1, ATXN10, ATXN7, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, B4GAT1, B9D2, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BOLA3, BTD, C12orf65, C19orf12, C1QBP, C21orf2, C2CD3, C5orf42, C9orf72, CA5A, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CASK, CAT, CC2D2A, CCDC115, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP43, CHCHD10, CHCHD2, CHKB, CHMP1A, CHMP2B, CHST14, CHST3, CHST6, CHSY1, CISD2, CIZ1, CLCN2, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CNNM2, COA3, COA6, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL6A3, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, CP, CPOX, CPS1, CPT1A, CPT2, CRB2, CSF1R, CSPP1, CSTB, CTH, CTNS, CTSA, CTSC, CTSD, CTSK, CUBN, CWF19L1, CYC1, CYCS, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS, DARS2, DBH, DBT, DCAF10, DCAF17, DCC, DCDC2, DCTN1, DCXR, DDC, DDHD2, DDX59, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHODH, DHTKD1, DKC1, DLAT, DLD, DMPK, DMXL2, DNA2, DNAH1, DNAJC12, DNAJC19, DNAJC5, DNAJC6, DNM1L, DNMT1, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DRD2, DRD5, DYM, DYNC2H1, DYNC2LI1, EARS2, EBP, ECHS1, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELAC2, ELOVL4, ENO3, EPG5, EPM2A, ERCC6, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EXT1, EXT2, FA2H, FAH, FAR1, FARS2, FASTKD2, FBP1, FBXL4, FBXO7, FDXR, FECH, FGF14, FGFR2, FH, FKRP, FKTN, FLAD1, FLVCR1, FMO3, FOLR1, FOXG1, FOXP2, FOXRED1, FTCD, FTL, FUCA1, FUT8, FXN, G6PC, G6PC3, GAA, GABRG2, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GARS, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCLC, GDAP1, GFAP, GFER, GFM1, GFPT1, GIF, GIGYF2, GJC2, GK, GLA, GLB1, GLDC, GLI3, GLIS2, GLRA1, GLRB, GLRX5, GLUD1, GLUL, GLYCTK, GM2A, GMPPB, GNAL, GNAO1, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GPAA1, GPD1, GPHN, GPR88, GRHPR, GRID2, GRM1, GRN, GSS, GTPBP2, GTPBP3, GUSB, GYG1, GYS1, GYS2, HAAO, HADH, HADHA, HADHB, HAMP, HCCS, HCFC1, HEXA, HEXB, HFE, HFE2, HGD, HGSNAT, HIBCH, HLCS, HMBS, HMGCL, HMGCS2, HNF1B, HNRNPH1, HOGA1, HPCA, HPD, HPRT1, HPS1, HSD17B10, HSD17B4, HSD3B7, HSPD1, HTRA2, HTT, HYAL1, HYLS1, IARS2, IBA57, ICK, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT80, INPP5E, INVS, IPPK, IQCB1, ISCU, ISG15, ISPD, ITPA, ITPR1, IVD, KARS, KCNA1, KCNC3, KCND3, KCNJ10, KCNK18, KCNMA1, KCNQ2, KCNQ3, KCTD17, KIAA0586, KIAA1161, KIF1C, KIF7, KMT2B, KYNU, L2HGDH, LAMP2, LARGE1, LARS2, LBR, LCAT, LCT, LDHA, LDLR, LDLRAP1, LIAS, LIPA, LIPC, LIPT1, LMBRD1, LONP1, LPIN1, LPL, LRPPRC, LRRK2, LYST, LZTFL1, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MAPKBP1, MAPT, MARS2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MECR, MFF, MFN2, MFSD8, MGAT2, MGME1, MKKS, MKS1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPV17, MR1, MRE11, MRPL3, MRPS22, MRPS34, MSMO1, MTFMT, MTHFR, MTO1, MTPAP, MTR, MTRR, MTTP, MUT, MVK, NAGA, NAGLU, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEK1, NEK8, NEU1, NFU1, NGLY1, NHLRC1, NKX2-1, NKX6-2, NOP56, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR4A2, NSDHL, NT5C3A, NUBPL, NUP62, OAT, OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OPLAH, OTC, OXCT1, PAH, PANK2, PARK7, PARS2, PAX6, PC, PCBD1, PCCA, PCCB, PCDH12, PCK1, PCSK9, PDE10A, PDE2A, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDPR, PDSS1, PDSS2, PDX1, PDYN, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGA, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PINK1, PKD1, PKD2, PKHD1, PLA2G6, PLP1, PMM2, PMPCA, PNKD, PNKP, PNP, PNPLA6, PNPO, PNPT1, POLG, POLG2, POLR3A, POMGNT1, POMGNT2, POMT1, POMT2, POR, PPA2, PPOX, PPP2R2B, PPP2R5D, PPT1, PRKAG2, PRKCG, PRKN, PRKRA, PRNP, PRODH, PRPS1, PRRT2, PSAP, PSAT1, PSEN1, PSPH, PTEN, PTF1A, PTS, PUS1, PYCR1, PYGL, PYGM, QARS, QDPR, RAB39B, RANBP2, RARS2, RBCK1, RBP4, RELN, RFT1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF170, RNF216, RNU7-1, ROBO3, RPGRIP1L, RPIA, RPL10, RRM2B, RYR1, SACS, SAMHD1, SAR1B, SARS2, SBDS, SC5D, SCN1A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SEPSECS, SERAC1, SETX, SGCE, SGSH, SI, SIL1, SKIV2L, SLC12A3, SLC16A1, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A3, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC41A1, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC6A19, SLC6A20, SLC6A3, SLC6A5, SLC6A8, SLC7A7, SLC7A9, SLC9A6, SMPD1, SMPD4, SNCA, SNCAIP, SNX14, SPG11, SPG7, SPR, SPTBN2, SPTLC1, SPTLC2, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STS, STT3A, STUB1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SYNE1, SYNJ1, SYT1, TACO1, TAF1, TALDO1, TANGO2, TARS2, TAT, TAZ, TBK1, TBP, TCN2, TCTEX1D2, TCTN1, TCTN2, TCTN3, TERT, TFR2, TGM6, TH, THAP1, TIMM50, TIMM8A, TINF2, TK2, TMEM107, TMEM126B, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TOE1, TOR1A, TPK1, TPP1, TRAF3IP1, TREM2, TREX1, TRIM37, TRMU, TRNT1, TRPM6, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTC21B, TTC37, TTC8, TTPA, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUFM, TUSC3, TWNK, TXNDC15, TYMP, UCHL1, UGT1A1, UMOD, UMPS, UQCRB, UQCRQ, UROC1, UROD, UROS, VAC14, VAMP1, VAMP2, VARS2, VIPAS39, VKORC1, VLDLR, VPS13A, VPS13B, VPS13D, VPS33B, VPS35, VPS37A, VPS4A, VPS53, VRK1, WDPCP, WDR19, WDR34, WDR35, WDR45, WDR73, WDR81, WFS1, WWOX, XDH, XPNPEP3, XPR1, XYLT1, XYLT2, YARS2, YIF1B, YY1, ZNF423, ZSWIM6.
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Methodology
NGS
Specimen Requirements
Descriptive |
Volume / Concentration 1 |
Container |
Transport temperature |
Sample viability (days) 2 |
---|---|---|---|---|
DNA | ≥ 100 µL [50 ng/µL] | Eppendorf Safe-lock | Room temp. | n/a |
Peripheral blood | ≥ 3 mL | EDTA | Room temp. | 5 |
1
When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2
Maximum shipping time to ensure sample quality
Turnaround Time (Days)
- 60
Specialties
- Rare diseases, Neurology / Neuropediatrics, Pediatrics
CGC Reference
- 5996
Associated Tests
Inborn errors of metabolism (WES based NGS panel of 834 genes, including CNV analysis)
Epilepsy (WES based NGS panel for 596 genes, including CNV analysis)
Mitochondrial diseases (WES based NGS panel of 268 genes, including CNV analysis)
Hereditary ataxias (WES based NGS panel of 214 genes, including CNV analysis)
Skeletal Dysplasia (WES based NGS panel of 531 genes, including CNV analysis, including CNV analysis)