SCA3 (MJD/ATXN3) Repeat Expansion Test

Test Code

92881

CPT Codes
81180

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Preferred Specimen

8 mL whole blood collected in two EDTA (lavender-top) tubes

Minimum Volume

6 mL

Instructions

Informed consent required. Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition forms.

Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable

Methodology
Repeat Expansion Detection by Polymerase Chain Reaction

FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Varies; Report available: 28 days

Report Available

28 Days

Reference Range

Technical Results:
Normal (≤44)
Borderline (45-59)
Positive (≥60)

Clinical Significance

Detects CAG triplet repeat expansion in the SCA3 gene. The usual clinical characteristics of the spinocerebellar ataxias are a slowly progressive incoordination of gait that is often associated with poor coordination of hands, speech, and eye movements.

Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752

The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.