GTR Test Accession:
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GTR000502872.5
CAP
Last updated in GTR:
2024-07-26
View version history
GTR000502872.5,
last updated:
2024-07-26
GTR000502872.4,
last updated:
2018-09-24
GTR000502872.3,
last updated:
2017-08-07
GTR000502872.2,
last updated:
2016-07-27
GTR000502872.1,
registered in GTR:
2014-05-02
Last annual review date for the lab: 2024-07-30
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment
Conditions (1):
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Thrombophilia due to activated protein C resistance
Genes (1):
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F5 (1q24.2)
Methods (1):
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Molecular Genetics - Targeted variant analysis: PCR
Target population: Help
Individuals exhibiting recurrent VTE (venous thromboembolism) especially DVT (deep vein …
Clinical validity:
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Up to 30% of patients presenting with deep vein thrombosis …
Clinical utility:
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Establish or confirm diagnosis;
Predictive risk information for patient and/or family members
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Amniotic fluid
- Buccal swab
- Chorionic villi
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
LOINC codes:
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Lab contact:
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Contact Policy:
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Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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1. Choose the desired test from the Test Directory.
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make …
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make …
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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FDA-reviewed (has FDA test name)
Informed consent required:
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No
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test Order Code,
Test strategy
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Targeted variant analysis
PCR
Genexpert System
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment
Clinical validity:
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Up to 30% of patients presenting with deep vein thrombosis (DVT) or pulmonary embolism (PE) have the mutation.
Clinical utility:
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Establish or confirm diagnosis
Predictive risk information for patient and/or family members
Predictive risk information for patient and/or family members
Target population:
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Individuals exhibiting recurrent VTE (venous thromboembolism) especially DVT (deep vein thrombosis) in the legs and upper extremities. Individuals at risk of pregnancy loss and complications such as preeclampsia, fetal growth retardation, and placental abruption. Factor V Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C (APC) …
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Recommended fields not provided:
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
Test Procedure:
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Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology
Test Confirmation:
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Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology
Test Comments:
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FDA Approved
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical sensitivity, specificity and accuracy greater than 99%; determined by in-house validations.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
CAP Testing Information Help
CAP/ACMG Molecular Genetics Series; Factor V Leiden (F5 gene); MGL1
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
CAP Testing Information Help
CAP/ACMG Molecular Genetics Series; Factor V Leiden (F5 gene); MGL1
Recommended fields not provided:
Assay limitations,
Description of internal test validation method,
Description of PT method
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
Consumer resources:
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.