Classic view of this page
Factor XI Mutation Analysis (Ashkenazi Jewish)
Clinical Genetic Test
Help
offered by
Quest Diagnostics Nichols Institute San Juan Capistrano
View lab's test page
LinkOut
GTR Test Accession: Help GTR000508011.6
INHERITED DISEASEHEMATOLOGY
Last updated in GTR: 2024-06-21
View version history
Last annual review date for the lab: 2024-06-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Screening
Conditions (1): Help
Hereditary factor XI deficiency disease
Genes (1): Help
F11 (4q35.2)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: SNP Detection
Target population: Help
This test identifies Ashkenazi-Jewish individuals who are at risk of …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Quest Diagnostics Nichols Institute San Juan Capistrano
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
16023
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Order URL
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
https://testdirectory.questdiagnostics.com/test/home
View citations (1)
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
SNP Detection
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Screening
Target population: Help
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
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity = 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.