Factor XI Mutation Analysis (Ashkenazi-Jewish)

Test Code

16023

CPT Codes
81401

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume

3 mL

Other Acceptable Specimens

Whole blood collected in an ACD (yellow-top) tube, or sodium heparin (green-top) tube

Instructions

Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Do not reject

Methodology
Polymerase Chain Reaction (PCR) • Single Nucleotide Primer Extension

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest 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: Thurs; Report available: 8 days

Limitations

These mutations account for more than 99% of disease causing mutations in the Ashkenazi Jewish population.

Reference Range

See Laboratory Report

Clinical Significance

This test identifies Ashkenazi-Jewish individuals who are at risk of having prolonged bleeding incidents (especially during surgery) due to mutations in the factor XI gene.

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.