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As a specific example, this includes BRCA1/2 mutation testing, mutations that are strongly associated with breast and ovarian cancer. Actionable outcomes from a
by zerocrates 3y ago
As a specific example, this includes BRCA1/2 mutation testing, mutations that are strongly associated with breast and ovarian cancer. Actionable outcomes from a positive result could go from something as small as getting more frequent screenings up to something like prophylactic mastectomy and/or oophorectomy.
- astrange 3y agoIf this is a DNA test why does it need to use blood instead of saliva or cheek scraping?
- cma 3y ago> Since WGS technology has no PCR enrichment of targeted regions, non-human contamination has a higher impact on overall sample quality metrics and can cause higher sample failure rates in Saliva and Buccal specimens. Therefore, blood is the preferred specimen for the Invitae Exome, when available.
- justrealist 3y agoSaliva is fine if quality is good, but it's incredibly hard to get people to follow protocol (no eating or drinking for 30 minutes, fill up to the line, shake the tube...) Blood you can't really mess up because a phlebotomist handles the protocol.