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Accuracy of direct mutation testing by TaqMan quantitative polymerase chain reaction for preimplantation genetic diagnosis of recurrent de novo mutations.

Fertility and sterility - 1 Apr 2026

Garro Diana, Xu Jia, Leahy Deirdre, Eccles Jennifer, Treff Nathan R, Marin Diego

Abstract excerpt

OBJECTIVE: To assess the accuracy and allele dropout (ADO) rate of preimplantation genetic testing for monogenic disease (PGT-M) when performing direct mutation testing alone, in the absence of family member-based linkage analysis. DESIGN: Retrospective evaluation of concordance between direct mutation testing using TaqMan quantitative polymerase chain reaction (qPCR) and linkage-based analysis to estimate ADO...

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PMID: 41352511
DOI: 10.1016/j.fertnstert.2025.12.004

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ADO

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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