Genetic fertility test
Carrier screening for severe recessive diseases for couples planning pregnancy. Key information for making informed reproductive decisions.
A screening that changes decisions
The fertility test is a carrier screening designed for couples planning pregnancy. We analyse more than 300 autosomal recessive and X-linked genetic diseases to detect whether one or both members of the couple are carriers of mutations which, without manifesting in them, could be transmitted to their offspring.
It is indicated before conception (preconceptional), during pregnancy or as part of the in vitro fertilisation process. The results make it possible to plan safely and, when necessary, to resort to techniques such as preimplantation genetic diagnosis (PGD).
The test is performed from a saliva or blood sample and requires neither fasting nor special preparation. The report includes personalised genetic counselling.
Why do it?
One in four people is a carrier of at least one severe recessive disease without knowing it. Knowing your carrier status is essential information for planning offspring.
Detectable recessive diseases
Cystic fibrosis, spinal muscular atrophy, fragile X, thalassaemias, congenital deafness, adrenal hyperplasia and more than 300 conditions with limited treatment and high impact.
Invisible inheritance
Being a carrier produces no symptoms, so 95% of at-risk couples only discover it after a diagnosis in their child. Screening lets you know beforehand.
Reproductive planning
If both of you are carriers of the same disease, there is a 25% probability in each pregnancy. Knowing this opens preventive and diagnostic options.
Integration with IVF
When there is elevated risk, PGD (preimplantation genetic diagnosis) may be indicated. We work with the main reproduction clinics.
How it works
Order the test
Individual (€200) or couple (€350). You receive immediate confirmation after online purchase.
Collect sample
Saliva at home or blood at any centre. Kit and refrigerated shipping included.
Analysis in 3–4 weeks
Targeted high-depth sequencing, variant calling and ACMG classification.
Genetic counselling
You receive the report and a session with a clinical geneticist to interpret risk and next steps.
How a recessive disease is inherited
In autosomal recessive inheritance, for a person to develop the disease they must inherit two mutated copies of the gene: one from the father and one from the mother. When only one mutated copy is inherited, the person is a healthy carrier, has no symptoms, but can transmit the mutation to their children.
If both members of the couple are carriers of a mutation in the same gene, each pregnancy carries:
- 25% probability of an affected child (two mutated copies)
- 50% probability of a healthy carrier child (one mutated copy)
- 25% probability of a non-carrier child (no mutated copies)
Detecting the situation before conception enables informed decisions: PGD, gamete donation, prenatal diagnosis or simply anticipated knowledge.
Choose your option
Individual
Carrier screening for one person
- 300+ recessive diseases
- Signed clinical report
- Genetic counselling
- Turnaround 3–4 weeks
Couple
Simultaneous screening of both members
- 300+ recessive diseases
- Cross-risk analysis
- Joint and detailed report
- Integration with IVF clinics
- Genetic counselling
- Turnaround 3–4 weeks
Why our test
- Expanded panelMore than 300 diseases, including the most prevalent and the most severe.
- Real variants, not just SNPsWe detect indels, intronic variants and CNV, not just the classic SNPs of commercial chips.
- Couple analysisWe cross the results of both to calculate the real transmission risk.
- Genetic counsellingAlways included with clinical geneticist, in person or telematic.
- Integration with IVFWe work with assisted reproduction clinics for PGD when necessary.
- Scalable to exomeIf the result is inconclusive, we can upgrade to a full exome without a new sample.
Plan with information
A simple test today can prevent years of uncertainty tomorrow. €200 per person, €350 couple.