Group Testing Approach for Trinucleotide Repeat Expansion Disorder Screening.

Abstract

BACKGROUND Fragile X syndrome (FXS, OMIM #300624) is an X-linked condition caused by trinucleotide repeat expansions in the 5' UTR (untranslated region) of the fragile X mental retardation 1 (FMR1) gene. FXS testing is commonly performed in expanded carrier screening and has been proposed for inclusion in newborn screening. However, because pathogenic… (More)
DOI: 10.1373/clinchem.2016.259796

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