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SCA6 (CACNA1A) Repeat Expansion Test - Athena #373
MessageThis test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.
Test Code
SCA6 PANEL(ATH#373)
Includes
Genes Included: CACNA1A
Preferred Specimen
Whole blood - Lavender EDTA - 3 tubes
Minimum Volume
Preferred: 8 mL
Minimum: 6 mL
Minimum: 6 mL
Transport Temperature
Room temperature. Avoid freezing.
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Repeat Expansion Detection by PCR
Report Available
28 - 42 days
Reference Range
Provided with patient report in CPRS.
Clinical Significance
Type of disorder: Movement Disorders
Typical presentation: Ataxia, poor coordination of hand, speech and eye movements, uncoordinated and unsteady gait
Disease(s) tested for: Spinocerebellar Ataxia Type 6 (SCA6)
Utility: Detects CAG triplet repeat expansion in the SCA6 gene
Typical presentation: Ataxia, poor coordination of hand, speech and eye movements, uncoordinated and unsteady gait
Disease(s) tested for: Spinocerebellar Ataxia Type 6 (SCA6)
Utility: Detects CAG triplet repeat expansion in the SCA6 gene
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
Additional Information
Link to Athena Diagnostics test catalog
Last Updated: December 18, 2015
