|Mutation screening – gene panels
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
This gene panel is part of a larger movement disorder gene panel which is divided into three panels: Parkinson disease panel, dystonia panel, and ataxia panel. However when ordering the ataxia panel only the genes in this subpanel are analysed.
For information about the genes in the larger movement disorder gene panel, please click here.
5 - 6 months
6 ml EDTA blood (small children 1-3 ml)
or extracted genomic DNA
Sent by courier or ordinary mail to Medical Genetics Laboratory, Kennedy Center, Gl. Landevej 7, DK-2600 Glostrup, Denmark