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Useful For
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This test panel detects the most relevant genetic variants associated with an increased risk of developing venous thromboembolism (VTE), i.e. Factor V Leiden (FV:c.1601G>A) and the Prothrombin variant (FII:c.*97G>A). It also includes the two common MTHFR variants linked to hyperhomocysteinemia (MTHFR:c.665C>T and MTHFR:c.1286A>C).
This test is particularly valuable for patients with a personal or family history of recurrent deep-vein thrombosis, pulmonary embolism, unexplained clotting events, or hyperhomocysteinemia.
The panel also supports clinical decision-making in situations where thrombophilia testing is indicated, such as early-onset thrombosis, pregnancy complications, use of hormonal therapy, or before prescribing medications where clotting risk assessment is important. By identifying individuals who carry inherited risk alleles, the test aids in guiding preventive strategies, patient counseling, and selection of appropriate clinical management.
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Method name and description
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Multiplex PCR assay based on the Amplification Refractory Mutation System (ARMS) technology. The assay amplifies specific genomic regions from DNA with allele-specific primers for the that targeted variants. Fluorescent primers are used, and the PCR products are analyzed by capillary electrophoresis on genetic analysers. Presence or absence of amplification (and corresponding fluorescence signal) indicates whether the target risk allele is present, allowing rapid and reliable detection of the most clinically relevant thrombophilia-associated variants.
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Clinical information
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Thrombophilia is a clinical condition characterized by an increased tendency to form abnormal blood clots in veins or, less commonly, in arteries. It may be inherited or acquired and results from defects in the body’s natural anticoagulation pathways. Individuals with thrombophilia have a higher risk of developing venous thromboembolism (VTE), including deep-vein thrombosis and pulmonary embolism, particularly during high-risk situations such as surgery, pregnancy, immobility, or use of estrogen-containing medications.
Inherited thrombophilia is mostly caused by genetic variants such as Factor V Leiden (FV:c.1601G>A) and Prothrombin:c.*97G>A, which alter coagulation balance. Clinically, thrombophilia may present with recurrent or unexplained clotting episodes, thrombosis at a young age, or a strong family history of VTE. Identifying thrombophilia helps guide preventive measures, counseling, and individualized management to reduce clotting risk.
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Aliases
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Thrombophilia Risk Panel
Thrombosis
DVT
Factor V Leiden
Prothrombin
MTHFR
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Specimen type / Specimen volume / Specimen container
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Specimen Type
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Specimen Volume
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Container/Tube
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Whole Blood*
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Adult: minimum 3 mL
Child: minimum 1ml
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Lavender top (EDTA) tube
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DNA*
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minimum 1 µg
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2ml sterile cryovial
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*Whole blood or DNA received from laboratories accredited by the College of American Pathologists (CAP), the International Organization for Standardization (ISO), or equivalent accreditation bodies is acceptable.
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Collection instructions / Special Precautions / Timing of collection
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Note: This is a "one-time " test. This means that the test is typically performed once and does not need to be repeated unless there are specific circumstances or changes in health status that warrant it.
Patient Preparation:
- If the patient has a history of allogeneic bone marrow transplantation, please include this information in the clinical details.
- Genetic counseling and informed consent are recommended.
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Specimen Type
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Container/Tube
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Volume Required
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Patient Preparation / Notes[HP3]
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Whole Blood (EDTA)
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Lavender-top EDTA tube
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Adult: ≥3 mL Child: ≥1 mL
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No specific patient preparation is required.
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DNA
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2ml sterile cryovial
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≥50 ng/µL concentration; minimum 20 µL
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DNA extraction method should be indicated for DNA received from external laboratories
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Relevant clinical information to be provided
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Submit With Order
- Clinical indication and relevant history
- Family history
- Document prior allogeneic bone marrow transplant (may confound results)
- Extraction method if DNA from external lab
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Storage and transport instructions
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Specimen Type
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Storage Before Transport
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Transport
Conditions
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Whole Blood (EDTA)
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Room temperature if within the day of collection.
2–8 °C is preferred if the delivery to the lab is later than the collection day.
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2–8 °C upright, avoid shaking; should be delivered to the lab ≤72 hours after collection.
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Extracted DNA
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2–8 °C (preferred) for a week. ≤–20 °C for more than a week
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2–8 °C (preferred) or Room Temperature if delivery is within 5 days.
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Specimen Rejection Criteria
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- Wrong specimen container.
- Leaking or contaminated container.
- Unlabeled specimen.
- Mislabeled specimen.
- Improperly filled request form.
- No specimen type stated
- No physician stamps (for paper request forms)
- No clinical history/data documented.
- The information written on the tube does not match the data on the request form, and there is no response when calling the ward for correction.
- No request form/electronic order received.
- Excessive hemolysis or clotted blood.
- Delayed specimens that are judged unsuitable for analysis.
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Biological reference intervals and clinical decision values
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An interpretive report will be provided
The report indicates the presence/absence, zygosity and associated risk for each of the tested variants.
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Turnaround time / Days and times test performed / Specimen retention time
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21 days
Working Days: Sunday to Thursday (7:00am -3:00pm)
Remaining whole blood aliquots and extracted DNA are stored indefinitely
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