Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 198 genes associated with ataxia: AAAS, ABCB7, ABHD12, ACO2, ADPRHL2 (ADPRS), AFG3L2, ALDH5A1, ALG6, ALS2, ANO10, APOPT1 (COA8), APTX, ARSA, ATCAY, ATM, ATP1A3, ATP8A2, AUH, C12orf65 (MTRFR), C19orf12, CA8, CACNA1A, CACNA1G, CAMTA1, CAPN1, CC2D2A, CCDC88C, CHCHD10, CLCN2, CLN5, CLPP, COQ2, COQ8A, COX20, CP, CTBP1, CWF19L1, CYP27A1, DARS2, DLD, DNAJC19, DNAJC3, DNMT1, EBF3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EPM2A, FA2H, FBXL4, FGF14, FLVCR1, FMR1, FOLR1, FXN, GAMT, GBA2, GCDH, GDAP2, GFAP, GJC2, GOSR2, GRID2, GRM1, HEPACAM, HEXA, HIBCH, ITM2B, ITPR1, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KCTD7, KIF1C, KIF5A, L2HGDH, LAMA1, LYRM7, MARS2, MECR, MLC1, MPV17, MRE11, MSTO1, MTFMT, MTO1, MTTP, NDUFAF2, NDUFAF6, NDUFS1, NDUFS7, NDUFV1, NEU1, NKX6-2, NOTCH3, NUBPL, OPA1, OPA3, OTC, PANK2, PCNA, PDHA1, PDSS2, PDYN, PEX10, PEX7, PHYH, PLA2G6, PLD3, PLP1, PMM2, PMPCA, PNKP, PNPLA6, POLG, POLR1C, POLR3A, POLR3B, PRKCG, PRNP, PRRT2, PSAP, PTRH2, PUM1, RARS1, RNASEH1, RNF170, RNF216, RPGRIP1L, RRM2B, RUBCN, SACS, SAMD9L, SCN2A, SCN8A, SCYL1, SDHA, SDHAF1, SETX, SIL1, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC25A3, SLC25A46, SLC2A1, SLC44A1, SLC52A2, SLC52A3, SLC6A19, SLC9A1, SLC9A6, SNX14, SPAST, SPG11, SPG7, SPR, SPTBN2, SQSTM1, SRD5A3, STUB1, SUMF1, SURF1, SYNE1, TACO1, TBP, TDP1, TDP2, TGM6, THG1L, TIMM8A, TMEM216, TMEM240, TMEM67, TMEM70, TPK1, TPP1, TSFM, TTBK2, TTC19, TTPA, TUBB4A, TWNK, UBA5, VAMP1, VARS2, VLDLR, VPS13D, WDR73, WDR81, and WFS1. For more information see Targeted Genes and Methodology Details for Inherited Ataxia Gene Panel and Method Description.

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for ataxia.