Contact Movement disorder gene panel* (Next Generation Sequencing, NGS)
The movement disorder NGS gene panel is divided into three subpanels:
Parkinson, Dystonia and Ataxia gene panels (in total 106 genes).
Parkinson disease gene panel (45 genes)
Genes associated with Parkinson disease, Parkinson-dystonia, or NBIA (Neurodegeneration with Brain Iron accumulation): ADH1C; ATP1A3; ATP6AP2; ATP13A2; C19ORF12; COASY; CP; CYP27A1; DBH ; DCAF17; DCTN1; DNAJC6, EIF4G1; FA2H; FBXO7; FTL; GAMT; GBA; GBA2; GCH1; GIGYF2; GJB1; HEPACAM; HTRA2; KCNMA1; LRRK2; MAPT; PANK2; PARK2; PARK7; PINK1; PLA2G6; PRKRA; PTS; SLC2A1; SLC6A3; SLC20A2; SNCA; SPR; SYNJ1; TAF1; TH; UCHL1; VPS35; WDR45
Dystonia gene panel (47 genes)
Genes associated with Dystonia, Parkinson-dystonia, or NBIA (Neurodegeneration with Brain Iron accumulation): ACTB; ANO3; AP4B1; ARX; ATP1A3; ATP13A2; C19ORF12; COASY; CHRNA4; CIZ1; CP; CYP27A1; DBH; DCAF17; DDC; DRD2; DRD5; FA2H ; FTL; GAMT; GCH1; GJB1; GLB1; GNAL; HEPACAM; NKX2-1; PANK2; PCBD1; PLA2G6; PNKD1; PRKRA; PRRT2; PTS; QDPR; SCP2; SGCE; SLC2A1; SLC6A3; SLC19A3; SPR; TAF1; TH; THAP1; TOR1A; TREX1; TUBB4A; WDR45
Ataxia gene panel (52 genes)
Genes associated with ataxia, or NBIA (Neurodegeneration with Brain Iron accumulation): ABCB7; AFG3L2; APTX; ATCAY; ATM; ATP2B3; ATP13A2; C19ORF12; CACNA1A; CACNB4; COASY; CP; CYP27A1; DARS2; DCAF17; EEF2; ELOVL4; FA2H; FGF14; FTL; FXN; GAMT; GJB1; GRM1; HEPACAM; ITPR1; KCNA1; KCNC3; KCND3; KIAA0226; MARS2; MRE11A; MTPAP; PANK2; PDYN; PLA2G6; POLG; PRKCG; SACS; SCN8A; SETX; SLC1A3; SPTBN2; SYNE1; SYT14; TDP1; TGM6; TTBK2; TTPA; VAMP1; VLDLR; WDR45
The genes associated with ataxia due to repeat expansion (ATXN1, ATXN2, ATXN3, CACNA1A1, ATXN7, ATXN8/80S, ATXN10, PPP2R2B, TBP, and NOP56) are not included, and FXN is only investigated for missense and other single-few base-pair mutations.