Dystonia, NGS
Detect genetic mutations causing dystonia; precise diagnosis and tailored therapy.
Genelist (232): AARS1, AARS2, ACTB, ACY1, ADAR, ADCY5, AFG3L2, ALS2, ANO3, APTX, ARSA, ARX, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP7A, ATP7B, ATXN1, ATXN2, ATXN3, AUH, BCAP31, BCS1L, BSCL2, BTD, C19orf12, CACNA1A, CACNA1B, CBS, CHMP2B, CIZ1, CLCN1, CLN3, CLN5, CLN6, CLN8, CLPB, COASY, COL4A1, COL6A3, COQ8A, COX10, COX15, COX20, CP, CSF1R, CSTB, CTSD, CTSF, CYP27A1, D2HGDH, DCAF17, DCTN1, DDC, TIMM8A, DLAT, DNAJC12, DNAJC5, DNAJC6, DRD2, DRD5, EARS2, ECHS1, ERCC6, FA2H, FASTKD2, FBXO7, FITM2, FOXG1, FOXRED1, FXN, FTL, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GLRA1, GM2A, GNAL, GNAO1, GNB1, GRN, HACE1, HEPACAM, HEXA, HIVEP2, HPCA, HPRT1, HTRA2, HTT, IFIH1, JPH3, KCNJ6, KCNMA1, KCNQ2, KCTD17, KCTD7, KIF1C, KMT2B, L2HGDH, LIPT1, LRPPRC, MARS2, MAT1A, MCEE, MCOLN1, MDH2, MECP2, MECR, MED20, MFSD8, MICU1, mLC1, MMAA, MMAB, MMADHC, MMUT, MPV17, MR1, MRE11, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX2-1, NKX6-2, NPC1, NPC2, NUBPL, NUP62, PAH, PANK2, PARK7, PCDH12, PDGFB, PDGFRB, PDHA1, PDHX, PINK1, PLA2G6, PLP1, PNKD, PNKP, POLG, POLR3B, PPT1, PRKN, PRKRA, PRRT2, PSEN1, PTEN, PTS, QDPR, RELN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN8A, SCP2, SETX, SDHA, SDHAF1, SERAC1, SGCE, SLC16A2, SLC19A3, SLC20A2, SLC25A1, SLC25A15, SLC2A1, SLC30A10, SLC39A14, SLC46A1, SLC6A19, SLC6A3, SLC6A8, SMPD1, SPAST, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TACO1, TAF1, TBC1D24, TBCD, TBCE, TH, THAP1, TIMM8A, TOR1A, TOR1AIP1, TPI1, TPP1, TRAPPC11, TREM2, TREX1, TTPA, TTC19, TUBB4A, UBA5, UQCRQ, VAC14, VPS13A, VPS13D, VPS35, VPS37A, WDR45, WDR73, XK, XPR1, YY1
Featured Review
Detect genetic mutations causing dystonia; precise diagnosis and tailored therapy.
Genelist (232): AARS1, AARS2, ACTB, ACY1, ADAR, ADCY5, AFG3L2, ALS2, ANO3, APTX, ARSA, ARX, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP7A, ATP7B, ATXN1, ATXN2, ATXN3, AUH, BCAP31, BCS1L, BSCL2, BTD, C19orf12, CACNA1A, CACNA1B, CBS, CHMP2B, CIZ1, CLCN1, CLN3, CLN5, CLN6, CLN8, CLPB, COASY, COL4A1, COL6A3, COQ8A, COX10, COX15, COX20, CP, CSF1R, CSTB, CTSD, CTSF, CYP27A1, D2HGDH, DCAF17, DCTN1, DDC, TIMM8A, DLAT, DNAJC12, DNAJC5, DNAJC6, DRD2, DRD5, EARS2, ECHS1, ERCC6, FA2H, FASTKD2, FBXO7, FITM2, FOXG1, FOXRED1, FXN, FTL, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GLRA1, GM2A, GNAL, GNAO1, GNB1, GRN, HACE1, HEPACAM, HEXA, HIVEP2, HPCA, HPRT1, HTRA2, HTT, IFIH1, JPH3, KCNJ6, KCNMA1, KCNQ2, KCTD17, KCTD7, KIF1C, KMT2B, L2HGDH, LIPT1, LRPPRC, MARS2, MAT1A, MCEE, MCOLN1, MDH2, MECP2, MECR, MED20, MFSD8, MICU1, mLC1, MMAA, MMAB, MMADHC, MMUT, MPV17, MR1, MRE11, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX2-1, NKX6-2, NPC1, NPC2, NUBPL, NUP62, PAH, PANK2, PARK7, PCDH12, PDGFB, PDGFRB, PDHA1, PDHX, PINK1, PLA2G6, PLP1, PNKD, PNKP, POLG, POLR3B, PPT1, PRKN, PRKRA, PRRT2, PSEN1, PTEN, PTS, QDPR, RELN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN8A, SCP2, SETX, SDHA, SDHAF1, SERAC1, SGCE, SLC16A2, SLC19A3, SLC20A2, SLC25A1, SLC25A15, SLC2A1, SLC30A10, SLC39A14, SLC46A1, SLC6A19, SLC6A3, SLC6A8, SMPD1, SPAST, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TACO1, TAF1, TBC1D24, TBCD, TBCE, TH, THAP1, TIMM8A, TOR1A, TOR1AIP1, TPI1, TPP1, TRAPPC11, TREM2, TREX1, TTPA, TTC19, TUBB4A, UBA5, UQCRQ, VAC14, VPS13A, VPS13D, VPS35, VPS37A, WDR45, WDR73, XK, XPR1, YY1