waffle_ss: Counsyl is a group of computer scientists working on literally this exact problem. We've already put a big dent in the issue with our v1 assay. We are now working on our v2, which is optimized for detecting mutations of the kind that Prof. Might and his wife carried. Take a look at the job description here for more info:
There are a lot of Hacker News people working here. And while it's sadly not in time for Matt and his son, we are launching a version 2.0 assay soon that should save couples in the future from ever going through something like this again.
http://goo.gl/kMrxk
Tell me what you think.