Trombophilia (MTHFR gene – the most common mutations)
Analysis ID 194
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Trombophilia (MTHFR gene – the most common mutations)
OMIM #188050
Clinical information Thrombophilia is a multifactorial disorder of abnormal blood clot formation resulting from an interaction of genetic, acquired, and environmental predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may result in a pulmonary embolism, once the clot gets into the blood vessels of the lungs. Other manifestations include thrombosis of the cerebral or visceral veins, as well as recurrent pregnancy loss.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes MTHFR
Analysis description Analysis consists of testing for 2 most common mutations in the MTHFR gene
Analysis indication Symptoms of thrombophilia
Analysis time 3 - 4 weeks
Refund No
CGM laboratory name Laboratory for Molecular Genetics