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Self Diagnosis of Lynch Syndrome Using Direct to Consumer Genetic Testing: A Case Study

29 Mar 2011

Abstract excerpt

We are reporting what we believe to be the first published case of patient initiated direct to consumer (DTC) genetic testing to test for the presence of a known familial mutation. Our client in this case is from a known MSH2 family; both his/her parent and associated grandparent have previously tested positive for the known familial MSH2 mutation. Using 23andme's "family inheritance genome-wide comparison"...

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PMID: 21448764
DOI: 10.1007/s10897-011-9356-y

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