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Ataxia, Comprehensive Evaluation
Test Code93242
CPT Codes
81178, 81179, 81180, 81184, 81181, 81344, 81183, 81182, 81284, 81343, 81177, 81185, 81286, 81403, 81404, 81405 (x2), 81406 (x4), 81407, 81408 (x2), 81479<br><strong>Restricted Client Code</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 an EDTA (purple-top) tube
Minimum Volume
6 mL
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing • Repeat Expansion Detection by Polymerase Chain Reaction • Dosage Analysis • Southern Blot
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: Varies; Report available: 21-28 days
Reference Range
See Laboratory Report
Clinical Significance
This test includes 11 repeat expansion tests, 33 genes sequenced, and ATM deletion test that identifies variants 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.