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Single-gene conditions
Some inherited conditions result from a change in a specific gene. PGT-M addresses a known single-gene condition in the family, rather than simply counting chromosomes.
Who may discuss PGT-M
The hospital describes PGT-M for families with a known single-gene disorder, a relevant family history, or a disease-causing variant carried by one or both partners. Existing genetic reports are important to the assessment.
Planning treatment
The clinical and laboratory teams review the identified condition and available genetic information before planning IVF and embryo testing. Contact the hospital with your existing reports to discuss the next steps.
The role of family history
PGT-M is directed at a particular inherited condition. The assessment may involve a known dominant variant in one partner, a recessive condition carried by both partners, or a relevant family history.
Examples discussed in the hospital’s information include hemophilia, some inherited forms of hearing loss, albinism and phenylketonuria. These examples do not mean the same test can be applied to every family; the identified genetic finding guides the laboratory discussion.
Carrier status and disease status
For some recessive conditions, a person can carry a disease-associated variant without having the condition. The intended testing question and the possible meaning of carrier findings should be discussed before treatment.
The family’s existing genetic results are more useful than a condition name alone. The medical team needs to review the reports relevant to the suspected or known inherited risk.
PGT-M within an IVF cycle
PGT-M is performed on embryo biopsy material as part of IVF. It does not replace the clinical stages of ovarian stimulation, retrieval, fertilization, embryo culture and transfer preparation.
The team reviews genetic information before agreeing on the testing and treatment sequence. The results are then discussed in relation to the planned embryo transfer.
Questions to resolve before PGT-M
What information is more useful than a condition name?
Share the actual genetic laboratory report, any identified disease-associated variant and the relevant family history. Reports for affected relatives or earlier embryo testing may also help the team understand the inherited condition under discussion.
Can a person be a carrier without having the condition?
For some recessive conditions, a carrier may not have the disease. This is why the family’s genetic findings and the possible meaning of carrier results need discussion before planning embryo testing.
Is PGT-M a general test for every genetic condition?
No. PGT-M is directed at a particular single-gene question in the family. A chromosome-number test alone cannot answer that question. Review the differences between PGT-A, PGT-M and PGT-SR.
How do I request a treatment estimate?
Send the existing reports for medical and laboratory review before requesting the proposed IVF and testing sequence. PGT-M requires an individual USD quotation; do not assume that a standard PGT-A package covers the same genetic work.
