| 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: | Ataxia, Comprehensive Evaluation |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| 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 |
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.
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. |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 21-28 days |
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