P679: Don't you already have a probe for that? Exploring the increasing complexity of PGT-M referrals for 'common disorders'
Abstract
Pre-Implantation Genetic Testing for Monogenic disorders, or PGT-M, is a type of genetic testing that evaluates a small embryo biopsy sample for the known variant(s) identified in the gamete contributors. Well known genetic disorders tend to have common variants which often leads to the question- “Does a probe need to be made- don’t you already have a probe for this disorder?” As PGT-M is a type of genetic testing using linkage markers, it is designed for each reproductive couple based on the variant(s) they have been identified to carry in a single gene.
Fields of Study & Subjects
Prenatal Screening and Diagnostics
Reproductive Health and Technologies
Genomics and Rare Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104169–104169
- Publication date
- 1 January 2026
- Language
- EN