Test Code: PNL297

Genes: AAAS, AASS, ABAT, ABCB7, ACER3, ACOX1, ACSF3, ACTB, ADAR, ADCY5, AFG3L2, ALDH18A1, ANO3, ANO10, AP1S2, APTX, ARFGEF3, ARSA, ARX, ASL, ATCAY, ATM, ATP1A2, ATP1A3, ATP7B, ATP13A2, ATXN2, AUH, BCAP31, BCS1L, C19orf12, CA8, CACNA1A, CACNA1G, CACNB4, CAMK4, CIZ1, CLN5, CLN8, CLPB, COASY, COL6A3, COX10, COX15, COX20, CSTB, CTSD, CWF19L1, CYP27A1, DCAF17, DCC, DDC, DHDDS, DLAT, DLD, DNAJC5, DNAJC6, DNAJC12, ECHS1, EIF2AK2, ELOVL4, FA2H, FBXO7, FGF14, FITM2, FOLR1, FOXG1, FOXRED1, FTL, FUCA1, FXN, GBA1, GCDH, GCH1, GJC2, GLB1, GLRA1, GLRB, GM2A, GNAL, GNAO1, GNB1, GRID2, GRIN1, GRM1, GTPBP2, HCFC1, HECW2, HEXA, HIBCH, HNRNPH1, HPCA, HPRT1, HSD17B10, HSPD1, HTRA2, HTT, IFIH1, IMPDH2, IRF2BPL, ITPR1, KCNA1, KCNC3, KCND3, KCNMA1, KCNQ2, KCTD17, KIF1A, KIF1C, L2HGDH, LRPPRC, MAL, MARS2, MECR, MED27, MRE11, MTFMT, NDUFA1, NDUFA2, NDUFA10, NDUFA12, NDUFAF5, NDUFAF6, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NGLY1, NKX2-1, NKX6-2, NPC1, NPC2, NUP54, NUS1, OPA3, PANK2, PCCA, PCCB, PCDH12, PDE1B, PDE2A, PDE10A, PDGFB, PDHA1, PDHX, PDYN, PET100, PINK1, PLA2G6, PLP1, PNKD, PNKP, PNPT1, POLR3A, PRKCG, PRKN, PRKRA, PRRT2, PTS, QDPR, RAB39B, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNU7-1, SACS, SAMHD1, SCN1A, SCN8A, SERAC1, SETX, SGCE, SHQ1, SIL1, SLC1A3, SLC2A1, SLC6A3, SLC6A5, SLC6A8, SLC16A2, SLC18A2, SLC19A3, SLC20A2, SLC30A9, SLC30A10, SLC39A14, SNORD118, SNX14, AFG2B, SPR, SQSTM1, STUB1, SUCLA2, SUOX, SURF1, SYNJ1, SYT1, TAF1, TARS2, TBC1D24, TBP, TGM6, TH, THAP1, TIMM8A, TMEM151A, TMEM240, TNR, TOR1A, TPK1, TPP1, TREX1, TSPOAP1, TTBK2, TUBB4A, UBTF, VAC14, VAMP1, VAMP2, VPS4A, VPS13A, VPS13D, VPS16, VPS41, WDR45, WDR73, WFS1, WWOX, YIF1B, YY1, ZSWIM6, ACBD6, CLN3, KMT2B, SPG7, ATP5MC3 (ATP5G3) (240 genes)

Sample Type: Blood in EDTA

Method: Capture-based target enrichment and Next Generation Sequencing

Turnaround Time: 3- 4 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 2200

Description:
Dystonia, chorea, and related movement disorders are neurological conditions characterised by involuntary, abnormal movements. They can present in both early (childhood) and adult-onset forms, with distinct causes, symptoms, and progression patterns.