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A member asked:

If a mutation is new & sift analysis predicts deleterious, but you only fit some of the criteria for the diagnosis, do you give the diagnose?

A doctor has provided 1 answer

Your doctor: Will be able to analyse the genetic result in combination with your symptoms and physical examination to determine your diagnosis

Dr Juchau agreed

Answered 6/20/2015

2.7k views

Thank

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