LABORATORY METHODS 
LABORATORY METHODS
PGT-M: Preimplantation genetic testing for monogenic diseases
PGT-M is recommended for couples with a proven family history of a specific genetic disorder and therefore with risk of transmission to their offspring.
Book a consultationWhat can PGT-M detect?
This method can detect the anticipated genetic burden of an embryo by one of more than 8,000 rare inherited diseases described so far, such as:
- Cystic fibrosis
- Huntington’s disease
- Various metabolic disorders
- Marfan syndrome
- Spinal muscular atrophy
- Familial hypercholesterolemia
- Neurofibromatosis
- Muscular dystrophy syndrome
- Fragile X syndrome
- Predisposition to cancer
How is testing conducted?
PGT-M testing can be performed in a normal IVF stimulation cycle, during which the woman's eggs are retrieved and subsequently fertilised with the partner's sperm. Most often, five-day-old blastocysts, are used for genetic testing, from which several cells are removed and examined.
This intervention does not jeopardise the development of the future embryo and will increase the chance that the foetus will be healthy.
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