Factor XI Mutation Analysis (Ashkenazi-Jewish)

Test Code

CPT Codes

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

Minimum Volume
3 mL

Other Acceptable Specimens
Whole blood collected in: ACD solution A or B (yellow-top), or sodium heparin (green-top) tube • Bone marrow in EDTA (lavender-top) tube • Amniotic fluid

Please indicate ethnicity of patient and clinical indication.
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship ambient immediately. Do not freeze.

Transport Temperature
Room temperature

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

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: 9 days

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

Reference Range
Factor XI deficiency (also known as Plasma Thromboplastic Antecedent (PTA) Deficiency) is an autosomally-inherited bleeding disorder affecting 1 in 190 individuals of Ashkenazi-Jewish ancestry. Individuals homozygous or compound heterozygous for mutations in the Factor XI gene (F11, located on chromosome 4) will be affected by a bleeding disorder of variable severity. In addition, this disorder does not demonstrate completely recessive inheritance, as approximately 20% to 50% of individuals heterozygous for a mutation in the F11 gene will also suffer from excessive bleeding. Many Factor XI deficient individuals will suffer severe prolonged bleeding following surgical procedures.

This assay tests for four mutations in the F11 gene: E117X (Type II), F283L (Type III), IVS14del14, and IVS14+1G→A (Type I). These mutations account for more than 99% of disease-causing mutations in the F11 gene in the Ashkenazi-Jewish population.

These mutations are detected by Polymerase Chain Reaction (PCR) amplification of the appropriate regions of the F11 gene, followed by single nucleotide primer extension reactions using fluorescent dideoxynucleotides, and detection of the fluorescent reaction products using an automated, capillary DNA sequencer.

Since genetic variation and other problems can affect the accuracy of direct mutation testing, these results should always be interpreted in light of clinical and familial data. For assistance with the interpretation of these results, please contact your local Quest Diagnostics genetic counselor or call 1-866-GENEINFO (436-3463).

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.

Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA
33608 Ortega Highway
San Juan Capistrano, CA 92675-2042

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.