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Genetics  (Expert Forum)
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A1298C
Answered by
AccessDNA
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.

A1298C

by greenesda, Aug 13, 2009 07:56PM
My daughter recently tested positive for one copy of the A1298C mutation.  She has also been diagnosed PDD NOS.  Should we consult with a genetics counselor or specialist?  My daughter is adopted and her birth parents both have mental health conditions as well as a variety of other health issues.

by Jordanna Joaquina, MS, CGC, Aug 17, 2009 11:18AM
To: greenesda
A consultation with a medical geneticist may be helpful regarding the history of mental health conditions and PDD NOS. Mental health issues are multifactorial conditions which involve both genetic and non-genetic factors. Some types of mental health conditions are more likely to have a stronger hereditary component than others. A medical geneticist can be found at the American College of Medical Genetics website.

A medical geneticist can also explain MTHFR and the A1298C variant. In general, if isolated, having one copy of the A1289C variant is not thought to be clinically significant. However, a medical geneticist can review your daughter's personal history, known family history, and any other test results to provide a more accurate risk assessment.
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