Thrombophilia test

What is thrombophilia?

Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People with thrombophilia have a higher risk for developing deep vein thrombosis and pulmonary embolism. Some research suggests that thrombophilia is associated with an increased risk of pregnancy loss (miscarriage) and other complications during pregnancy.

What are neural tube defects?

Neural tube defects are a group of birth defects that occur during the development of the brain and spinal cord. Mutations of the MTHFR gene are associated with an increased risk of neural tube defects.

What is this series of tests for?

This series of tests detect mutations in 5 genes (Factor II, Factor V, MTHFR, MTRR and PAI1) that are commonly associated with inherited thrombophilia, and increased risk of repeated pregnancy loss, neural tube defects and having a child with Down syndrome. The genes can be tested alone (Factor II – test code: GFT; Factor V – test code: GFV; MTHFR – test code: GMR) or in combinations (Factor II + Factor V + MTHFR – test code: GTP; all 5 genes – test code: GTM).

Who should consider this test?

  1. Women who have history of complicated pregnancies, including recurrent pregnancy loss and/or stillbirths
  2. Women who gave birth to children with neural tube defects such as spina bifida

Test Specifications

Test Code
Specimen Requirements
Turnaround Time
Sanger sequencing
3 mL blood in EDTA tube
5 days
Sanger sequencing
3 mL blood in EDTA tube
5 days
Sanger sequencing
3 mL blood in EDTA tube
5 days

Rejection criteria

  • Specimen without proper labeling
  • Specimen not in requested format or insufficient quantity
  • Specimen in container expired for more than 1 month
  • Container leakage
  • Sampling date is more than 7 days
  • Frozen specimen, haemolysed or clotted blood specimen

Factor(s) known to affect results

  • Improper collection, handling and storage of specimen

How to get started

Our tests must be ordered by a doctor. Ask your doctor if a Mygenia test is right for you. We can help you find a doctor if you don’t have one.

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