Test Code: PNL256
Spinocerebellar ataxia, Comprehensive (62 Genes)
Neurogenetics
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.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
62 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
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