Carrier Screening Genetic Testing Europe - PFC


CarrierTest is a genetic test that can detect hidden mutations that cause certain serious genetic diseases in carriers who are otherwise healthy. Two healthy carriers of the same mutation have an up to a 25% chance of passing on the genetic defect to their children. 50% of their children will also be carriers of the defect. The genetic compatibility test is therefore performed on both women and men before natural conception or as part of the initial testing of a couple in assisted reproduction.

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What is CarrierTest?

A genetic compatibility test for a couple that can detect an otherwise healthy carrier of a genetic disease

On average, 1 in 4 or 5 healthy people in the population carry one or more genetic mutations. When a carrier of the same mutation is paired with a carrier of the same mutation, so-called recessive genetic diseases occur, where the mutation is in the genes of both partners in a couple. These are inherited diseases such as cystic fibrosis, spinal muscular atrophy, nonsyndromic deafness, α and β thallasemia, sickle cell anaemia, phenylketonuria, type 1 albinism and others. In some cases, these are also so-called fragility X syndromes, where the carrier is female and the disease is manifested only in male children.

With CarrierTest, we can analyse up to 2,000 genes
that can cause serious genetic diseases. We also include gene variants that may be linked to reproductive disorders or thrombophilic conditions. These can reveal the degree of response or risks associated with hormone stimulation in IVF. Genetic compatibility testing is thus an important indicator for us to set up a comprehensive and fully personalised IVF treatment.

How is the CarrierTest is performed?

The genetic compatibility test is performed as a simple blood test. The results are available within three months of the sample being taken and indicate the presence or absence of one or more key gene mutations in each couple. However, we can never rule out the carriage of all existing mutations. A minimal, residual” risk of carriage always remains. Based on the results of both the woman and the man, we then determine the genetic compatibility of the couple. If both are negative, the risk decreases significantly. If both are positive, the risk increases significantly to 25%. If only one is positive, the risk is low.

If a genetic mutation is detected in both or one of the couple, assisted reproduction can prevent the transmission of the disease in the following ways:

Preimplantation genetic diagnosis of embryos from own cells — PGT‑M test, thanks to which we can select genetically healthy embryos for transfer

Fertilisation with donor cells — sperm or eggs

If we suggest these more procedurally and financially demanding treatment options, we always consult about the entire procedure as a team and explain everything to you in context.