Ataxia, Comprehensive Evaluation

Test Code
6930

Test Details


Test code: 6930
Type of disorder: Movement Disorders
Disease(s) tested for: Hereditary Ataxia
Genes Included: ADCK3, AFG3L2, ANO10, APTX, ATM, ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, CACNA1A, CACNB4, EEF2, FGF14, FLVCR1, FXN, GRM1, ITPR1, KCNA1, KCNC3, KCND3, MRE11A, MTPAP, PDYN, POLG, PPP2R2B, PRKCG, SACS, SETX, SIL1, SLC1A3, SPTBN2, SYNE1, SYT14, TBP, TDP1, TGM6, TTBK2, TTPA, VAMP1
Tests included:
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information


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, Dosage Analysis, Southern Blot
Reference Range: Accompanies report

CPT Coding


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: 81443(1)

Specimen Requirements


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: 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.

Shipping Considerations


Transport Temperature: Room temperature
Set-up/Analytic Time: 21-28 days

Additional Resources

Letters of Medical Necessity

Subscribe to Test Menu Updates

You'll get notified for all critical test updates.

Sign Up

Register With Athena Diagnostics

Saved profiles, requisition order history, supply order history and easy reordering!

Register