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Comment Re:What test is being used? (Score 1) 453

The Ontario test is different. It is called the Protein Truncation test. It has been used around the world for years and its strength is that when a mutation is identified, you know that it is a real mutation because it causes a shortened protein. The Mryiad test is also good but about 25% of the alterations they find are of unknown significance thereby complicating the clinical care that results. A recent paper comparing a number of methods showed that the PTT and Myriad method picked up 100% of a panel of mutations. No other method did. Reference upon request.

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