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SCA3 (MJD/ATXN3) Repeat Expansion Test
Test Code92881
CPT Codes
81180<br><strong>*** RESTRICTED USE *** This code is available for Client #54840, 55738, 56176, 51618, 51921, 57748, 55851, 53814, 57807, 57814, and 54329 ONLY.</strong>
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
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Repeat Expansion Detection • Polymerase Chain Reaction • Fragment Size Analysis
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 FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Report available: 14-28 days
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.
