Errata to the above post. Rare diseases can't be diagnosed to 100% certainty by genetic testing. From research I've done its varies but is between 78% to 90% for Angelman for example. So the "100% certainty" I stated should be adjusted to perhaps 75%+. I think this will increase over time and may end up close to 100% eventually, seeing as all these diseases are ultimately seen as genetic in cause.
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