Infant DNA sequencing finds genetic disorders that standard testing misses

Vancouver Sun |
October 2016

Highlighting the story of a family who participated in the BabySeq study that detected their newborn infants partial biotinidase deficiency. Shawn Fayer, the project manager of BabySeq and a licensed genetic counselor stated, ” Symptoms would likely have appeared if the child had become sick from something else, which makes it very difficult to diagnose. Those parents were very happy to be part of the study.”

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