GTR Test Accession:
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GTR000552064.1
Registered in GTR:
2016-09-20
View version history
GTR000552064.1,
registered in GTR:
2016-09-20
Last annual review date for the lab: 2023-07-12
Past due
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Prognostic
Conditions (3):
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Hereditary thrombophilia;
Myocardial infarction;
Pregnancy loss, recurrent, susceptibility to, 2
Genes (1):
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SERPINE1 (7q22.1)
Methods (1):
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Molecular Genetics - Targeted variant analysis: RT-qPCR
Target population: Help
Pregnant woman, thrombophilia, miocardial infarction
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Manufacturer's name:
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PAI 4G/5G
Specimen Source:
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- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Health Care Provider
Test Order Code:
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PAI 4G/5G
Contact Policy:
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Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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Molecular PAI / PAI 4G/5G
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service:
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Custom mutation-specific/Carrier testing
Test development:
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Manufactured (research use only; not FDA-reviewed)
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 3
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Targeted variant analysis
RT-qPCR
LightCycler 2.0
Clinical Information
Test purpose:
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Diagnosis;
Prognostic
Target population:
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Pregnant woman, thrombophilia, miocardial infarction
View citations (2)
- Salazar Garcia MD, Sung N, Mullenix TM, Dambaeva S, Beaman K, Gilman-Sachs A, Kwak-Kim J. Plasminogen Activator Inhibitor-1 4G/5G Polymorphism is Associated with Reproductive Failure: Metabolic, Hormonal, and Immune Profiles. Am J Reprod Immunol. 2016;76(1):70-81. doi:10.1111/aji.12516. Epub 2016 May 04. PMID: 27145077.
- Polymorphisms Associated with Increased Cardiovascular Risk in the General Population do not Predict Acute Events in Hemodialysis Patients. Rolla R, et al. Clin Lab. 2016;62(4):639-44. doi:10.7754/clin.lab.2015.150813. PMID: 27215083.
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:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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A total number of 132 different genomic DNA samples from individuals of Caucasian origin were analyzed in parallel by sequencing and with the present kit. The study compared results obtained with the kit with ABI 3730xl DNA sequencing data obtained by LGC Genomics GmbH, Berlin. Study results: Results for both …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
internal controls provided
PT Provider: Help
provider - Tibmolbiol
Yes
Method used for proficiency testing: Help
internal controls provided
PT Provider: Help
provider - Tibmolbiol
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:
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Not provided
Additional Information
Reviews:
Clinical resources:
Practice guidelines:
Consumer resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.