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SCA7 (ATXN7) Repeat Expansion Test
Test Code92921
CPT Codes
81181<br>Limited Access Code
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 each of two EDTA (lavender-top) tubes
Minimum Volume
6 mL
Instructions
Informed consent: Non-critical
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
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
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 FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: As needed; Report available: 14-21 days
Reference Range
Normal: 18 CAG trinucleotide repeats
Clinical Significance
Detects CAG triplet repeat expansion in the SCA7 gene
Typical Presentation: Ataxia, poor coordination of hand, speech and eye movements, uncoordinated and unsteady gait
Indications for testing: Spinocerebellar ataxia