Glossary · Definition · v2026.3
What Is PGT-M?
PGT-M (preimplantation genetic testing for monogenic disorders) is a laboratory test performed on embryos during IVF to detect specific inherited single-gene conditions such as cystic fibrosis, sickle cell disease, or BRCA mutations.
Clinical significance
PGT-M is recommended when one or both parents are known carriers of a specific genetic condition. It requires a custom test probe developed from the family's genetic information before the IVF cycle begins, making it more specialized and costly than PGT-A.
Common confusion
PGT-M is not the same as PGT-A. PGT-A screens for chromosome number abnormalities, while PGT-M targets a specific known genetic mutation. Both can be performed on the same embryo biopsy sample.
Related reference
Used in
This content defines terminology for educational orientation. It does not constitute medical advice.
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