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Genetic Study of Hereditary Thrombophilia (11 genes, 15 variants)
Clinical Genetic Test
Help
offered by
HeartGenetics, Genetics and Biotechnology, SA
View lab's test page
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GTR Test Accession: Help GTR000509478.11
INHERITED DISEASEHEMATOLOGY
Last updated in GTR: 2024-04-15
View version history
Last annual review date for the lab: 2024-04-15 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Conditions (1): Help
Hereditary thrombophilia
Genes (11): Help
F12 (5q35.3); F13A1 (6p25.1); F2 (11p11.2); F5 (1q24.2); FGB (4q31.3) more...
Methods (2): Help
Molecular Genetics - Sequence analysis of select exons: High Resolution Melting; ...
Target population: Help
Individuals with personal or family history of thromboembolic diseases, pulmonary …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis; Guidance for management
Ordering Information
Offered by: Help
HeartGenetics, Genetics and Biotechnology, SA
View lab's website
View lab's test page
Test short name: Help
TromboGene
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
Genetic study of Hereditary Thrombophilia
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 service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: TromboGene
Test additional service: Help
Custom mutation-specific/Carrier testing
    OrderCode: TromboGene
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 11
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Sequence analysis of select exons
High Resolution Melting
Targeted variant analysis
Allele-specific primer extension (ASPE)
MassARRAY® System by Agena Bioscience
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening; Therapeutic management
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Guidance for management
View citations (1)

Target population: Help
Individuals with personal or family history of thromboembolic diseases, pulmonary thromboembolism, stroke or myocardial infarction at young ages , Family history of thrombotic vascular diseases (TVD), No history of TVD but exposed to environmental risk factors (prolonged immobilization: long travels, orthopedic and major surgeries; muscle and vessels injuries, pregnancy and … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Not applicable

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Not applicable

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. The tests are constantly being updated in terms of content and genetic interest. Therefore, the doctor will be contacted if there are significant changes in the rules generated by the results obtained for the genes studied.
Research:
Is research allowed on the sample after clinical testing is complete? Help
Not applicable
Sample reports:
Sample Positive Report Help
Sample Positive Report
Recommended fields not provided:
Clinical validity, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Sample negative report
Technical Information
Test Procedure: Help
Sanger sequencing
Test Platform:
Other
Availability: Help
Tests performed
Entire test performed in-house

Test performance comments
All wet lab work, interpretation and generate report are performed in the location: Biocant Park, Núcleo 4, Lote 4A 3060-197 Cantanhede Portugal
Analytical Validity: Help
Accuracy 0.99 with a sensitivity of 0.99 and a precision of 0.99.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

PT Provider: Help
Institute for Standardization and Documentation in the Medical Laboratory, INSTAND

Description of PT method: Help
Exercises are performed annually on at least one gene representative of the panel in question.

Description of internal test validation method: Help
All assays contain internal controls.
VUS:
Laboratory's policy on reporting novel variations Help
Not applicable
Recommended fields not provided:
Test Confirmation, Assay limitations, Citations to support internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
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.