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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Ataxia, Complete Recessive Evaluation
Test Code93241
CPT Codes
81443<br /> Restricted Client 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 an EDTA (lavender-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 the 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 FXN repeat expansion test, 18 genes sequenced, and ATM deletion test that identifies genes associated with autosomal recessive ataxias, including Friedreich ataxia. Smaller panels of its components are also available.