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A case for expanding carrier testing to include actionable X-linked disorders.


ABSTRACT: A research study utilizing whole-genome sequence analysis for preconception carrier screening provided a genome-first detection of a severe de novo Factor VIII mutation in a woman with implications for pregnancy management and life-saving interventions of her newborn son, and a challenge to the existing paradigm regarding carrier testing.

SUBMITTER: Rope AF 

PROVIDER: S-EPMC6230667 | BioStudies | 2018-01-01

REPOSITORIES: biostudies

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