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SCA12 (PPP2R2B) Repeat Expansion Test - Athena #285
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
SCA12 DNA(ATH#285)
Includes
Genes Included: PPP2R2B
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: Tremor of arms and head, mild ataxia, dysmetria, hyperreflexia.
Indications for testing: Clinical features consistent with those of Ataxia
Disease(s) tested for: Spinocerebellar Ataxia Type 12 (SCA12)
Utility: Detect repeat expansions in SCA12 gene
Typical presentation: Tremor of arms and head, mild ataxia, dysmetria, hyperreflexia.
Indications for testing: Clinical features consistent with those of Ataxia
Disease(s) tested for: Spinocerebellar Ataxia Type 12 (SCA12)
Utility: Detect repeat expansions in SCA12 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
