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Prothrombin Mutation Analysis
Clinical Genetic Test
Help
offered by
Molecular Pathology Laboratory
GTR Test Accession: Help GTR000512445.5
CAP
HEMATOLOGYINHERITED DISEASE
Last updated in GTR: 2018-08-27
View version history
Last annual review date for the lab: 2024-05-16 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Screening
Conditions (1): Help
Thrombophilia due to thrombin defect
Genes (1): Help
F2 (11p11.2)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: PCR with electrochemical detection
Target population: Help
Patients with venous thrombosis or at risk of venous thrombosis …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Pathology Laboratory
View lab's website
Test short name: Help
PTGEN
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
PTGEN
LOINC codes: Help
**LOINC codes notice
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Vivianna Van Deerlin, PhD, MD, ABPath, FCAP, Lab Director
vivianna.vandeerlin@pennmedicine.upenn.edu
215-662-6644
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.
Test development: Help
FDA-reviewed (has FDA test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
How to Order, Test strategy
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
PCR with electrochemical detection
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Screening
Target population: Help
Patients with venous thrombosis or at risk of venous thrombosis due to family history
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
100% analytical sensitivity and specificity
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: IVD - In Vitro Device.
FDA Review of (Item reviewed): Test kit(s)
FDA Regulatory Status: FDA cleared/approved
Application number: K093974
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.