MTHFR Thermolabile Variant Analysis

Test Background

Homozygous c.677C>T+c.677C>T in the Methylene tetrahydrofolate reductase (MTHFR) gene is associated with higher than normal levels of homocysteine, which may increase risk for thrombosis. In addition, this mutation/polymorphism is considered a MTHFR Thermolabile Variant and is associated with hyperhomocysteinemia, increased cardiovascular risk, increased risk of neural tube defects in offspring, and increased risk of preeclampsia. Furthermore, mutations in the MTHFR gene may cause MTHFR Deficiency/Homocystinuria. Please note, current knowledge indicates that heterozygous c.677C>T, a highly prevalent polymorphism, is not associated with increased thrombosis risk.

This laboratory performs targeted mutation analysis for c.677C>T and will only report it in the homozygous state.



About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.

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