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Sickle cell anaemia is an inherited blood disorder, with ~50% of the global cases arising in India. The condition is caused by a faulty "sickle gene" which is inherited in autosomal recessive mode- a single copy of this gene causes sickle cell trait (benign) and two copies cause sickle cell anaemia.(Haemoglobinopathies/Blood disorders)

Pro-thrombin and Factor V Leiden

The annual incidence of venous thromboembolism (deep vein thrombosis and pulmonary embolism) is approximately 117 per 100,000 persons or about 1 per 1,000 person-years. ACMG selected two mutations associated with increased risk for occurrence/recurrence of venous thrombosis—the factor V Leiden and the prothrombin 20210G>A (factor II) 1

Prothrombin and Factor V Leiden are genetic mutations associated with an increased risk of blood clot formation. Prothrombin refers to a protein involved in the blood clotting process, while Factor V Leiden refers to a specific mutation in the Factor V gene, which affects the activity of a clotting protein called Factor V.

Individuals with these mutations have an altered blood clotting mechanism, making them more susceptible to developing abnormal blood clots, a condition known as thrombophilia. This increased clotting tendency can lead to various health issues, including deep vein thrombosis (DVT), pulmonary embolism (PE), and other clot-related complications. Prothrombin and Factor V Leiden mutations can be associated with an increased risk of miscarriages and may be considered as part of the evaluation for recurrent pregnancy loss.

When should you get tested?

  1. Individuals who have a personal or family history of blood clots, particularly deep vein thrombosis (DVT) or pulmonary embolism (PE).
  2. Individuals or couples who have experienced multiple unexplained pregnancy losses.
  3. Testing may be advised before initiating hormonal contraception (such as birth control pills) or hormone replacement therapy (HRT) in women.
  4. Testing may be considered before major surgeries or periods of prolonged immobilization.
  5. If there is a known family history of Prothrombin or Factor V Leiden mutations

Test specifications

                                                                                                                                       
TechniquePlatformVariant typesTATSample requirements
Sanger sequencingABI3700Mutation3 - 4 weeks2 ml EDTA Blood / 2 ug DNA

References

  1. Spector, Elaine B., et al. "Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G> A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories." Genetics in Medicine 7.6 (2005): 444-453.

Sample type:

  1. Molecular analysis : 2 ml of blood in an EDTA vacutainer (purple cap) collected aseptically.
  2. Prenatal Diagnosis : Chorionic villus sample (30-40 mg) or Amniotic fluid (20-30 ml ) or Purified DNA ( 2-3micro micrograms ) or Fetal chord blood sample ( 1-2 ml).

Transportation :

The samples may be sent at room temperature within 48 hrs from the sample collection time.

TAT:

7-10 Days

Note :

TRF + Form G + Form F + Clinical history*

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