It was weeks before anyone knew what was wrong with baby Charlotte. The newborn had been transferred by helicopter to UCSF Benioff Children's Hospital Oakland from California's Central Valley at six weeks old. She was malnourished, congested and wouldn't eat - and no one could figure out why. Finally, a rapid whole genome sequencing (rWGS) test revealed the cause. Charlotte had inherited a rare genetic disease called prolidase deficiency from her parents, who were unaware they were carriers. The condition can cause skin lesions, recurrent respiratory infections and liver problems, among other things.

https://www.miragenews.com/genetic-test-aids-sick-newborns-expectant-moms-1078213/

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