Test Code: PNL256

Genes: ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8OS, ATXN10, ATN1, BEAN1, CACNA1A, CACNA1G, CCDC88C, CWF19L1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, GRID2, GRM1, FMR1, FXN, IFRD1, ITPR1, KCNC3, KCND3, NFASC, NOP56, PDYN, PMPCA, POLG, PPP2R2B, PRKCG, RNF216, RUBCN, SACS, SCYL1, SETX, SLC9A1, SNX14, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TDP2, TGM6, TMEM240, TRPC3, TTBK2, TTPA, TWNK, UBA5, VWA3B, WDR73, WWOX (62 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method:

Turnaround Time: 3 weeks

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

Price: 2000

Description:
The Spinocerebellar Ataxia, Comprehensive Panel (62 genes) is a genetic test designed to identify pathogenic variants across a broad spectrum of genes associated with hereditary ataxias, particularly autosomal dominant and recessive spinocerebellar ataxias (SCAs). Spinocerebellar ataxias (SCAs) are a group of genetically and clinically heterogeneous neurodegenerative disorders characterized by progressive cerebellar dysfunction. This comprehensive panel is used to diagnose known and rare forms of SCA, especially when clinical features overlap or are atypical.