SCA12 (PPP2R2B) Repeat Expansion Test

Test Code
285

Test Details


Test code: 285
Type of disorder: Movement Disorders
Disease(s) tested for: Spinocerebellar Ataxia Type 12 (SCA12)
Genes Included: PPP2R2B
Profiles that contain this test:
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information


Clinical Significance: 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
Methodology: Repeat Expansion Detection by PCR
Reference Range: No repeat expansions detected

CPT Coding


The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

CPT: 81343(1)

Specimen Requirements


Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Specimen Type: Whole blood
Specimen Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
Specimen Requirements: 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes.
Instructions: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. 

Shipping Considerations


Transport Temperature: Room temperature
Set-up/Analytic Time: 21-28 days

Additional Resources

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