Quest Diagnostics Hereditary Thrombophilia Genetic Insights Test User Guide
- June 12, 2024
- Quest Diagnostics
Table of Contents
Genetic Insights: quick reference
guide for healthcare providers
This guide is intended to facilitate discussion between a provider and
their patient.
Genetic Insights test results: Hereditary thrombophilia
Key results
The DNA variant c.*97G>A associated with hereditary thrombophilia was found in both copies of the F2 gene.
Next steps
Clinical recommendations | Resources |
---|---|
Genetic Insights is a screening test and not intended for diagnosis. | Have |
questions?
Call 1.866.GENE.INFO (1.866.436.3463) to speak to a specialized Quest genetic
counselor or geneticist available to healthcare providers to discuss test
selection and results.
Evaluation of personal, family, and other risk factors for thrombosis is
warranted for accurate risk assessment.| Need to order?
If this result was not previously known, consider confirming the result prior
to making any medical management decisions based on this result alone.| Check
with your institution and/or patient’s insurance about the preferred testing
laboratory.
Blueprint Genetics ® offers hereditary thrombophilia testing. To confirm this
test result, targeted variant testing for the variant identified is available.
You can order a confirmation test here: Blueprint Genetics/TVT
Consider a referral to a hematologist for discussion of these results.| The
American Society of Hematology offers tools to search for a specialist:
Hematology.org/Education/Patients/Find-A-Hematologist
Consider referring your patient to a genetic counselor.| Your patient can
schedule a 1-on-1 remote genetic counseling session through their online
Genetic Insights dashboard at no additional cost.
Genetic counselors can provide counseling on the implications of this test
result and next steps for your patient.| To find a genetic counselor
practicing in your patient’s area for an in-person session, please visit
FindAGeneticCounselor.NSGC.org
Patient conversation starters:
Patient conversation starters summarize the preceding information in plain
language to support meaningful conversations between you and your patient.
FindAGeneticCounselor.NSGC.org
Your Genetic Insights test is a screening test. If you have other risk factors
for blood clots, it might be helpful to speak with a hematologist.
It’s also important that you talk with a genetic counselor. Genetic counselors
are experts in genetics and can help you understand this result and potential
next steps.
You can access a genetic counselor through your online Genetic Insights
dashboard at no additional cost to you, and we can discuss a referral to a
local genetic counselor.
Visit QuestDiagnostics.com/Genetic-Health-
Screening for more
information about this test.
What is hereditary thrombophilia?
Hereditary thrombophilia describes a group of inherited conditions that
increase susceptibility to venous thromboembolism (VTE), particularly deep
vein thrombosis (DVT) or pulmonary embolism (PE). 1 The most common forms of
hereditary thrombophilia are due to DNA variants in the Factor 2 (F2) and/or
Factor 5 (F5) genes. The common DNA variant in the F2 gene is also known as
prothrombin, and the common DNA variant in the F5 gene is also known as Factor
V Leiden. Most people with DNA variants in these genes are asymptomatic and
never experience a thrombotic event, though relative risk is increased
compared to the general population. 1,4 This result indicates 2 variants
linked to hereditary thrombophilia. For individuals with 2 variants linked to
hereditary thrombophilia, risk of VTE is increased compared to people with
only 1 or no variant. 1,2 An individual’s risk depends on a combination of
genetic, acquired, and other circumstantial factors. 4 Management depends on
clinical history and other VTE risk factors. 1-4 See the Management options
section for more detail.
Patient conversation starters:
Hereditary thrombophilia is caused by a DNA variant in a certain gene.
Hereditary thrombophilia is an inherited condition that can increase the
chance that a person may have an abnormal blood clot. The most serious types
of blood clots that can happen are called deep vein thrombosis (DVT) and
pulmonary embolism (PE). These blood clots can be dangerous.
However, most people with hereditary thrombophilia never develop an abnormal
blood clot.
Factors other than genetics can also increase the chance of having an abnormal
blood clot, such as being overweight or spending long periods of time sitting,
like plane trips.
What this result means for family members
DNA variants linked to hereditary thrombophilia are inherited or passed down
in families. In people with DNA variants linked to hereditary thrombophilia,
biological parents, siblings, and children are all at risk for having a form
of hereditary thrombophilia.
A genetic counselor can help determine the most appropriate testing options.
People with hereditary thrombophilia should consider sharing their results
with their at-risk family members so they can speak with their healthcare
provider about their own risks for VTE.
Patient conversation starters:
Hereditary thrombophilia runs in families.
That means the DNA variants that cause hereditary thrombophilia can be
inherited or passed down from parents to their children.
Since you have DNA variants linked to hereditary thrombophilia, at least 1 of
your biological parents likely has a form of hereditary thrombophilia. This
also means your siblings and children have a higher chance of having DNA
variants linked to hereditary thrombophilia.
Other relatives might also have 1 or both of these DNA variants. Sharing your
results with your family members may be helpful so they can talk to their own
healthcare providers about genetic testing for hereditary thrombophila.
Management options
Various risk factors interact with genetic predisposition to increase the risk
of VTE in individuals with hereditary thrombophilia. 4
The following is a selected list of risk factors that may be considered in
asymptomatic individuals with hereditary thrombophilia 4 :
r Risk factor | Management or counseling considerations |
---|---|
Age | Present age-specific information and risks |
Anti-phospholipid antibody (APLA) | Discuss VTE risks and other management |
guidelines for those with APIJ.
Family history of VTE| :Thirdly history can inform individual risks and should
be assessed
Cancer| individuals with cancer require prophylactic anticoagulation as
indicated, regardless of hereditary thrombophilia
Central venous I catheter (CVC)| Routine prophylaxis is not routinely
recommended: risks should be discussed
Immobility/ Hospitalization| Discuss risks of VTE: compression devices and/or
prophylactic anticoagulation in certain scenarios may be recommended
Surgery/Trauma| Prophylactic anticoagulation may be recommended in certain
circumstances regardless of hereditary thrombophilia status
Contraception| Discuss VTE risks associated with estrogen-containing and other
contraception
Hormone replacement therapy/Pregnancy| Risks and options should be discussed
Obesity| Obesity may interact with other risk factors for VTE: maintaining a
healthy body weight should be discussed
Travel| Low-risk travelers should maintain mobility; high-risk travelers may
discuss additional options
Patient conversation starters:
Besides genetics, there are many other factors that can increase the chance
someone may have an abnormal blood clot.
People with hereditary thrombophilia who have never had an abnormal blood clot
can consider these risk factors and if there are any actions they might take
to help lower the chance that a blood clot might happen.
See current guidelines and literature for a complete list of options and
recommendations. Options and guidance may change over time. Individuals with a
personal or family history of thrombosis should discuss their history with a
healthcare provider for specific guidance.
Additional resources
The following patient advocacy groups have additional information and
resources about hereditary thrombophilia:
National Blood Clot Alliance: StopTheClot.org
North America Thrombosis Forum: Thrombosis.org
References
-
Kujovich, JL. Factor V Leiden thrombophilia. May 14, 1999. Updated January 4, 2018. In: Adam MP, Ardinger HH, Pagon RA, et al, editors. GeneReviews ® [Internet].
University of Washington, Seattle; 1993-2019. www.ncbi.nlm.nih.gov/books/NBK1368/ -
Kujovich, JL. Prothrombin-related thrombophilia. July 25, 2006. Updated August 14, 2014. In: Adam MP, Ardinger HH, Pagon RA, et al, editors. GeneReviews®
[Internet]. University of Washington, Seattle; 1993-2019. www.ncbi.nlm.nih.gov/books/NBK1148/ -
Stevens SM, Woller SC, Bauer, KA, et al. Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. J Thromb Thrombolysis. 2016; 41:154–164. doi:10.1007/s11239-015-1316-1
-
Varga EA, Kujovich JL. Management of inherited thrombophilia: guide for genetics professionals. Clin Genet. 2011;81(1):7-17. doi:10.1111/j.1399-0004.2011.01746.x
This information is not a substitute for medical advice, diagnosis, or treatment. The diagnosis or treatment of any disease or condition may be based on personal history, family history, symptoms, a physical examination, laboratory test results, and other information considered important by a healthcare provider.
Individuals should talk with a healthcare provider about the meaning of genetic test results and before stopping, starting, or changing any medication or treatment.
Genetic Insights is a test developed and performed by Quest Diagnostics. The test results are not diagnostic and do not determine overall chances of developing a disease or health condition. The tests are not cleared or approved by the US Food and Drug Administration.
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References
- Targeted Variant Testing - Blueprint Genetics
- Home
- Find a Hematologist - Hematology.org
- Home | Quest Diagnostics
- Genetic health screening | Quest Diagnostics
- National Blood Clot Alliance
- Home | North American Thrombosis Forum
- Prothrombin Thrombophilia - GeneReviews® - NCBI Bookshelf
- Factor V Leiden Thrombophilia - GeneReviews® - NCBI Bookshelf
- National Blood Clot Alliance
- Home | North American Thrombosis Forum
- Genetic health screening | Quest Diagnostics