MTHFR C677T/ A1298C Mutations

This test measures the presence of specific mutations in the MTHFR gene. These mutations can affect the enzyme's activity, leading to abnormal processing of homocysteine. Abnormal levels of homocysteine are associated with increased risk of thrombophilia and other related conditions.

• To evaluate the genetic risk of hyperhomocysteinemia
• To screen for thrombophilia in individuals with a history of venous thromboembolism or family history
• To assess the risk during pregnancy, especially in cases of deep vein thrombosis, fetal death, or fetal growth restriction
• To investigate a family history of stroke or thrombosis in young individuals

Indications for MTHFR testing include:

• Venous thromboembolism, especially if occurring in an unusual site
• Deep vein thrombosis during pregnancy
• Venous thromboembolism while on oral contraceptives
• Fetal death after 10 weeks gestation
• Fetal growth restriction and/or preeclampsia
• Family history of stroke
• Family history of pulmonary embolism
• Family history of deep vein thrombosis in first-degree relatives under age 50

The normal test result range indicates the absence of specific mutations. Abnormal results may indicate the presence of the MTHFR C677T or A1298C mutations, which can increase the risk of hyperhomocysteinemia. However, abnormal results do not definitively confirm the presence of a health condition; further evaluation and interpretation by a doctor are necessary.

• The test requires a blood sample
• The laboratory will use a method called real-time PCR to detect the presence of specific mutations

• No fasting or special diet is required
• Inform your doctor about any medications you are taking as some may interfere with the test
• Follow any specific instructions given by your doctor

• Homocysteine levels: Measures the amount of homocysteine in the blood, which helps assess the risk of thrombophilia and cardiovascular diseases
• Factor V Leiden Mutation: Evaluates a specific genetic mutation associated with an increased risk of abnormal blood clotting
• Prothrombin Gene Mutation: Tests for a genetic mutation that affects blood clotting

• MTHFR Mutation Test
• Genetic Homocysteine Risk Evaluation

Hyperhomocysteinemia is a condition characterised by abnormally high levels of homocysteine in the blood. Homocysteine is an amino acid produced during the breakdown of proteins. Elevated levels of homocysteine are associated with increased risk of blood clot formation, leading to conditions such as thrombophilia, deep vein thrombosis, and stroke. Monitoring MTHFR mutations helps identify individuals at risk for hyperhomocysteinemia.