"Monogenic disorders" refers to diseases or conditions that are caused by changes, or mutations, in a single gene. The mutation in this gene can lead to various health problems or abnormalities in the body. Full definition
In 2014, the researchers say, 32 % of prenatal diagnostic tests for monogenic disorders in their laboratory were non-invasive. (sciencedaily.com)
In this presentation I will explain how, in our accredited public service genetics laboratory, we have developed a comprehensive diagnostic service for the non-invasive prenatal diagnosis of monogenic disorders. (moleculardxeurope.com)
Dr. Wedell has implemented clinical whole - genome sequencing for monogenic disorders at the Karolinska University Hospital, and she has discovered a number of novel monogenic diseases affecting brain metabolism, some of which have opened new avenues for treatment. (sciencemag.org)