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by FeepingCreature 2336 days ago
I'm adopted. Can I find out if I'm at risk from a DNA mapping service like 23andme?
2 comments

Prevalence is 200 per 100k so you’re almost certainly not affected. If you want to be sure a routine ECG and a trans thoracic ultrasound usually is sufficient to diagnose / exclude cardiac myopathy. 23andme doesn’t even look at the whole genome, they just look for common disease associated polymorphisms. No way of telling if you have a mutation that’s not in their database and even if you have a mutation it could be deactivated epigenetically or other factors could lead to you not suffering the disease.
> it can be detected via ultrasound and treated pharmacologically or interventionally

To me that sounds like a more reliable way to find out.