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Monday, March 10, 2014
Folic acid gene mutation
I recently had several tests performed after it was discovered I had a small stroke. I do not understand the signifance of the results. (1) Protein C Antigen of 166 with ref range >=70% , (2) Protien C Functional 144 with a ref rang 74-151 (3) C-Reactive Protein, Quant 7.5 with a ref range of 0 - 4.9 (4) C-Reactive Protein of 1.20 with a ref range of <0.80. What is the clinical reason for doing a Quanitative C-Protein? I also now know I have 2 copies of a folic acid gene mutation - C677T and A1298C. Is this an acquired mutation or an inherited mutation?
First of all, it is not possible for me to give definitive interpretations of laboratory results, as all results should be considered only in the context of the patient's circumstances.
Here is some general information that may help. Protein C antigen and functional testing are often checked to see if a patient has a predisposition to forming blood clots. Your tests are within normal limits.
The C-reactive protein (CRP) and quantitative CRP are non-specific markers of inflammation or infection. Your test results are "elevated" outside of the normal range, but this may not be "abnormal" if one of a variety of other things was happening simultaneously. For example, if you had a cold virus during the time in which this was taken, then the results obtained would have been expected.
I cannot comment on the importance of the folic acid gene testing. There have been mixed studies in the literature suggesting that mutations in the folic acid gene are (some studies) or are not (just as many studies) associated with strokes. We just don't know for sure what these results mean as yet.
As per my initial remarks, please discuss these tests with the physician(s) who ordered them and who are caring for you. I hope this helped.
Brett Kissela, MD
Assistant Professor of Neurology
Director, Neurology Residency Program
College of Medicine
University of Cincinnati