| Test code: | 6910 |
| Type of disorder: | Movement Disorders |
| Disease(s) tested for: | Autosomal Recessive Ataxia |
| Genes Included: | ADCK3, AFG3L2, ANO10, APTX, ATM, FLVCR1, FXN, GRM1, MRE11A, MTPAP, POLG, SACS, SETX, SIL1, SYNE1, SYT14, TDP1, TTPA, |
| Tests included: | Ataxia with Vitamin E Deficiency (AVED) TTPA DNA Sequencing Test Friedreich Ataxia (FXN) DNA Sequencing Test Friedreich Ataxia (FXN) Repeat Expansion Test |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | This test includes FXN repeat expansion test, 18 genes sequenced, and ATM deletion test that identifies genes associated with autosomal recessive ataxias, including Friedreich ataxia. 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: | 81286, 81284, 81404, 81405(2), 81406(3), 81408, 81479 |
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. |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 21-28 days |
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