| Test code: | 6901 |
| Type of disorder: | Movement Disorders |
| Disease(s) tested for: | Hereditary Ataxia |
| Genes Included: | ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, CACNA1A, TBP, |
| Tests included: | SCA1 (ATXN1) Repeat Expansion Test SCA10 (ATXN10) Repeat Expansion Test SCA17 (TBP) Repeat Expansion Test SCA2 (ATXN2) Repeat Expansion Test SCA3 (MJD/ATXN3) Repeat Expansion Test SCA6 (CACNA1A) Repeat Expansion Test SCA7 (ATXN7) Repeat Expansion Test SCA8 (ATXN8OS) Repeat Expansion Test |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | This test includes repeat expansion detection for the eight most common genetic causes of SCA (1, 2, 3, 6, 7, 8, 10 and 17) including the ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8OS, ATXN10, and TBP genes. |
| Methodology: | Repeat Expansion Detection by PCR, Long Read Sequencing |
| Reference Range: | Accompanies report |
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: | 81177(1), 81178(1), 81179(1), 81180(1), 81181(1), 81182(1), 81184(1), 81344(1) |
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: | |
| 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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