A member asked:

When i got my huntington's disease test results back i was told it came back positive with 42 cag repeats. what does that mean exactly?

A doctor has provided 1 answer

Huntington Gene: In the gene which is abnormal in huntington's disease, there is an increased amount of repeats of the nucleotides cag. Normal people also have repeats in this gene but huntington's patients have an increased number. Depending on the laboratory who does the tests, anything above 30 or 32 is considered abnormal. At 42 repeats, this is consistent with a diagnosis of huntington's.

Answered 9/5/2014

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