| Clinical Significance: | This test includes 11 repeat expansion tests, 33 genes sequenced, and ATM deletion test that identifies mutations and repeat expansions associated with all types of hereditary ataxias. This test may be useful for suspected hereditary ataxia with unavailable or inconclusive family history. Smaller panels of its components are also available. |
| Methodology: | Next Generation Sequencing, 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), 81183(1), 81184(1), 81185(1), 81284(1), 81286(1), 81344(1), 81343(1), 81403(1), 81404(1), 81405(2), 81406(4), 81407(1), 81408(2), 81479(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: | 10 mL (8 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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