RepromedaLab has contributed a new publication to the impacted peer-reviewed Journal of Assisted Reproduction. The article focuses on a new preimplantation genetic testing (PGT) method known as OneGene PGT. This method uses advanced next-generation sequencing (NGS) to diagnose monogenic diseases and aneuploidies in embryos reliably. OneGene PGT allows for a comprehensive genetic analysis of the embryo before its transfer to the uterus, enabling a decision on which embryo is accessible from the risk of congenital disease and has the highest potential to nest in the uterus.
The technique has been successfully validated and used for seven common monogenic diseases (cystic fibrosis, non-syndromic deafness, Fragility X, sickle cell anemia/beta-thalassemia, Huntington's disease and breast and ovarian cancer predisposition - BRCA1 and BRCA2 genes).
Further details of the method and its application and validation results are detailed in a publication (OneGene PGT: comprehensive preimplantation genetic testing method utilizing next-generation sequencing - PubMed (nih.gov). Advances in PGT-M are bringing hope to many couples who are trying to have a baby and face an increased risk of having offspring with an inherited genetic disease.
Our Director of Research and Development, Miroslav Hornak, authored the publication with contributions from the entire Molecular Genetics Laboratory staff.