Fairfax Diagnostics PGT Lab

Preimplantation Genetic Testing for Monogenic Disorders

In this detailed article published in Genes, the reader can gain insight into the process and advancements in the detection of monogenic disorders and single-gene diseases using PGT-M. It also covers past, present, and future technologies that underpin the usefulness of PGT in the context of familial or de novo genetic diseases. The review stresses that PGT-M is a more complex methodology than PGT-A alone requiring a preclinical workup, genetic counseling, genetic report detailing the gene and variant in question, expertise in test design, and the merging of analytical methods that also provide information on chromosomal copy number. Interestingly, the authors address the future whereby DNA sequencing-based methods may provide an all-in-one solution to perform all aspects of PGT (A, M, & SR) from a single embryo sample using single platform such as NGS.