OneGene PGT: comprehensive preimplantation genetic testing method utilizing next-generation sequencing.

ABSTRACT:

Purpose

Preimplantation genetic testing for monogenic disorders (PGT-M) allows early diagnosis in embryos conceived in vitro. PGT-M helps to prevent known genetic disorders in affected families and ensures that pathogenic variants in the male or female partner are not passed on to offspring. The trend in genetic testing of embryos is to provide a comprehensive platform that enables robust and reliable testing for the causal pathogenic variant(s), as well as chromosomal abnormalities that commonly occur in embryos. In this study, we describe PGT protocol that allows direct mutation testing, haplotyping, and aneuploidy screening.

Methods

Described PGT protocol called OneGene PGT allows direct mutation testing, haplotyping, and aneuploidy screening using next-generation sequenc

SUBMITTER: Hornak M 

PROVIDER: S-EPMC10789686 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature