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-literature | 2018 Nov

REPOSITORIES: biostudies-literature