An overview of reproductive carrier screening panels for autosomal recessive and/or X‐linked conditions: How much do we know?

Abstract excerpt

BACKGROUND & AIM: Reproductive carrier screening seeks to identify couples at a high risk of having offspring affected by autosomal recessive and X-linked (XL) conditions. The aim of this paper is to provide a comprehensive overview of existing carrier screening panels by examining their gene content and characteristics, identifying the most common genes/conditions included in these panels, and analyzing their...

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