| Clinical Significance: | Detects CAG/CAA triplet repeat expansions in the SCA17 gene
Typical Presentation: Ataxia, poor coordination of hand, speech and eye movements, uncoordinated and unsteady gait |
| Methodology: |
Repeat Expansion Detection by PCR
|
| Reference Range: | Normal: < 40 CAG/CAA trinucleotide repeats |
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: | 14-21 days |
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