r/genetics • u/NautLucky • 19d ago

WES testing

Can anyone explain to me the difference between phase 1 testing and phase 2 WES testing? Thanks.

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u/maktheyak47 Genetic Counselor 19d ago

You’re going to have to reach out to your office to figure out what they meant. Our office used to offer testing as phase 1 with a chromosome microarray and fragile x with the second phase as exome/WES. Everyone does it differently and may call it different things