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

Diana Garro¹, Jia Xu², Deirdre Leahy², Jennifer Eccles², Nathan R Treff³, Diego Marin⁴

¹Genomic Prediction Inc., North Brunswick Township, New Jersey; Biology School, Universidad de Costa Rica, San José, Costa Rica. Electronic address: diana@genomicprediction.com.

²Genomic Prediction Inc., North Brunswick Township, New Jersey.

³Genomic Prediction Inc., North Brunswick Township, New Jersey; Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers University, New Brunswick, New Jersey.

⁴Genomic Prediction Inc., North Brunswick Township, New Jersey; Department of Human Genetics, Rutgers University, North Brunswick, New Jersey.

PubMed DOI

Abstract

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 t…

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