Genetic Testing

Procedure description

In the world’s leading clinics, specialized tests are used to detect chromosomal abnormalities in embryos. This procedure is called PGT (Preimplantation Genetic Testing) and is performed before the embryo transfers into the uterus.

In addition, European clinics offer comprehensive preconception screening programs for prospective parents. A DNA test analyzes mutations in the genomes of both the mother and father, helping to assess the risk of giving birth to a child with a genetic disorder. Such testing, including PGT, helps reduce the risk of passing on genetic mutations to a child that could lead to the development of cancer. For more on the role of genetic factors in pediatric oncology, see our article on pediatric oncology.

Genetic risk factors

To date, more than 6,500 hereditary diseases are known to be transmitted from parents to a child at conception. Statistics show that:

• around 50% of spontaneous miscarriages are due to genetic mutations in the embryo
• approximately 2% of children are born with genetic disorders

Features of genetic testing in leading international clinics

DNA is present in every cell of the human body, which is why modern laboratories typically use blood samples, saliva, or buccal swabs (samples taken from the inner surface of the cheek) for testing.

In top European clinics, two advanced methods of genetic testing are applied:

• CMA (Chromosomal Microarray Analysis)
• NGS (Next-Generation Sequencing) — providing a much broader scope of genetic information

Why is genetic testing expensive?

• High cost of laboratory equipment (e.g., sequencers).
• Specialized consumables and reagents required for testing.
• Highly trained geneticists — their work requires years of advanced education, ongoing professional development, and expertise in genetics, molecular biology, and medicine.
• Strict laboratory requirements — compliance with international standards and mandatory certification.

Despite the cost, this kind of testing remains one of the most effective tools for early prevention: identifying mutations in genes such as BRCA1, BRCA2, or APC makes it possible to assess cancer risk well before symptoms appear and plan monitoring or preventive steps in advance. For more on how genetic tests can help prevent cancer, see our article on cancer prevention.

Genetic testing is also part of comprehensive check-up programmes recommended by age — starting from young adulthood, when assessing individual genetic risk becomes a priority. For more on which screenings suit different ages, read our full guide, «Check-up for Men and Women: A Complete Guide to Routine Examinations for All Ages».