ПГТ-М - First Genetics

Expert advice

The price includes a consultation with a geneticist

Turnaround time

Development of an individual test system — up to 60 working days, performing PGT — up to 30 working days

Testing of any complexity

We perform PGT of various complexity categories

Independent interpretation

The final result is checked by three of our specialists

What is PGT-M

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PGT-M is a preimplantation genetic testing for monogenic diseases designed for couples who want to minimize the risk of passing on to their child a genetic pathology of which they are carriers.

6000+rare hereditary diseases are currently registered in scientific databases

Main causes of monogenic diseases:

Point mutations
Deletions/duplications that disrupt gene functioning

Important: PGT-M can only be performed with a referral from a geneticist!!
The analysis requires biomaterial from partners and close blood relatives.

How does a monogenic genetic disease pass from parents to a child?

Monogenic diseases are divided into two types of inheritance:

1) Dominant — clinical manifestations are possible even when only one of the two copies of the gene transmitted from a parent with an established clinical diagnosis is damaged

2) Recessive — the disease manifests itself only if both copies of the gene are damaged. In this case, parents, as a rule, do not have clinical manifestations, but are carriers of a pathogenic genetic variant.

If the defective gene is located on an autosome (any chromosome other than the sex chromosomes), in case of dominant hereditary diseases, the probability of inheriting the variant from a parent is 50%.

If both parents are carriers of the recessive variant, the probability of inheriting both copies of the damaged gene is 25%.

Diseases with a recessive type of inheritance associated with the X chromosome (X-linked recessive type of inheritance)

50%of female children will be carriers of the variant.

50%chance that a pathogenic variant inherited from a carrier mother will result in the development of the disease in a male child.

Since boys have only one X chromosome, a single altered copy of the gene is enough for them to develop the disease.

PGT-M is justified for families with a high risk of transmitting a monogenic disease — a specific disease associated with a single gene.

PGT-M is advisable if:

Both partners are carriers of the same autosomal recessive disease
(for example, cystic fibrosis)
The patient is a carrier of an X-linked disorder
(e.g. Duchenne muscular dystrophy)
One of the partners has an autosomal dominant disorder
(e.g. Huntington’s disease)
One of the partners has a mutation associated with a hereditary cancer syndrome
(e.g. described pathogenic variant in BRCA1/2)
The couple has a child with a confirmed hereditary disorder

Testing is performed using ART and is designed to identify embryos with monogenic genetic disorders inherited from their parents for further decision-making on the transfer of a healthy embryo into the uterine cavity.

Important: PGT-M can only be performed with a referral from a geneticist!!
The analysis requires biomaterial from partners and close blood relatives.

Minimization of the risk of transmission of genetic diseases to offspring even before the embryo is transferred into the uterine cavity.
Reducing the likelihood of possible complications associated with artificial termination of pregnancy, which is not only an ethical dilemma, but also carries a psychological burden for the couple.

If desired or necessary, PGT-A (preimplantation genetic testing for aneuploidies) can be performed.

Individual approach

To ensure maximum accuracy in embryo diagnostics,
First Genetics Laboratory individually develops a panel for each case of monogenic disease and uses several complementary analysis methods.

PGT-M is a reliable research method for families with a high risk of inheriting monogenic genetic diseases, which makes it possible to exclude their transmission to descendants.