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Genetics  (Expert Forum)
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Interpretation of blood work result.
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Welcome to the Genetics Forum! Questions in the Genetics Forum are being answered by genetic experts from AccessDNA. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.

Interpretation of blood work result.

by bien652, Jun 30, 2009 04:07PM
I did recently some blood work, and the result found positive for one copy of the A1298C MUTATION.My doctor can't interpret it and recommend me to consult a specialist. Please let me khown what's  going on. Thanks.

by Jordanna Joaquina, MS, CGC, Jul 08, 2009 12:03PM
To: bien652
We cannot say for sure without seeing the results. However, A1298C is a common variation in the MTHFR gene. We all have two copies of the MTHFR gene, one from each parent.

We recommend a session with a genetic professional, who can review and explain the results and  discuss possible clinical implications. A genetic counselor can be found at the National Society of Genetic Counselors website or through companies like mine, AccessDNA. Hope this information helps.
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