Abstract
Carrier screening for specific genetic disorders is recommended by the American Congress of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics (ACMG), and numerous societies representing the Ashkenazi Jewish population. Due to cost considerations and limitations of the technologies employed, traditional carrier screening assays are designed to look for only the most common mutations within a gene. This older approach can yield high detection rates in specific populations (e.g., the Ashkenazi Jewish); however, it is suboptimal for other ethnicities or for patients of mixed or unknown ethnic background.
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