Article
Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.
Annals of laboratory medicine - 1 Jul 2021
Gu Hyunjung, Kim Man Jin, Yang Dahae, Song Ji Yun, Cho Sung Im, Park Sung Sup, Seong Moon-Woo
Abstract excerpt
BACKGROUND: Conventional diagnosis of fragile X syndrome (FXS) is based on a combination of fragment analysis (FA) and Southern blotting (SB); however, this diagnostic approach is time- and labor-intensive and has pitfalls such as the possibility of missing large number alleles. Triplet repeat primed PCR (TP-PCR) is a current alternative used to overcome these limitations. We evaluated the diagnostic usefulness...
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