Here are my lab results, i need to know the name of the clotting disorder that i have. Result: A1298C/A1298C Two copies of the same mutation (A1298C/A1298C) identified . Interpretation: . This patient s sample was analyzed for the MTHFR mutations C677T and A1298C. Two copies of the A1298C mutation were identified. Results for the C677T mutation were negative. Elevated homocysteine levels have not been reported when two copies of the A1298C mutation have been found. The diagnosis of hyperhomocysteinemia can not rely on DNA testing alone but should take into consideration clinical findings and other studies, such as serum homocysteine levels. Because MTHFR mutations and their associated risks are inherited, genetic counseling and testing of at-risk family members should be considered. .
There are two common mutations in the MTHFR gene that are associated with elevated levels of homocysteine in the blood. MTHFR C677T and A1298C gene mutations are the most common ones that are tested.In your case, it is the A1298c gene that is defective, but, as also mentioned in the interpretation, this mutation carries a low risk of elevated homocysteine levels. and why are elevated homocysteine levels dangerous ? because they increase risk of heart disease and thrombosis.
I find this answer helpful
You found this answer helpful
Disclaimer: These answers are for your information only and not intended to replace your relationship with your treating physician.
This is a short, free answer.
For a more detailed, immediate answer, try our premium service
[Sample answer]
We use cookies in order to offer you most relevant experience and using this website you acknowledge that you have already read and understood our
Privacy Policy
What Does My Blood Test Report Indicate?
There are two common mutations in the MTHFR gene that are associated with elevated levels of homocysteine in the blood. MTHFR C677T and A1298C gene mutations are the most common ones that are tested.In your case, it is the A1298c gene that is defective, but, as also mentioned in the interpretation, this mutation carries a low risk of elevated homocysteine levels. and why are elevated homocysteine levels dangerous ? because they increase risk of heart disease and thrombosis.