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 from the most frequent severe recessive conditions (115-gene ACMG panel) up to more than 360 in the extended modalities, 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 report includes genetic counselling by email.
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, congenital deafness and other severe recessive diseases. In the extended modalities, spinal muscular atrophy, fragile X, thalassaemias and adrenal hyperplasia are added (through complementary tests), covering more than 360 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
From €200: individual or couple pack. Extended modalities are requested by email. Immediate confirmation after online purchase.
Collect sample
Saliva at home or blood at any centre. Home kit and return shipping included.
Analysis in 30 calendar days
Whole-exome sequencing, variant calling and ACMG/AMP classification.
Genetic counselling
You receive the report and we answer your questions by email with our genetics team.
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.
Four screening levels
Choose according to your history. All modalities include a signed clinical report and resolution of queries by email.
Standard
115-gene panel (ACMG Tier 3)
- 115 genes: the most common severe recessive diseases
- Signed clinical report
- Turnaround 30 calendar days
Extended
Panel of more than 360 genes + complementary tests
- More than 360 diseases with full sequencing
- Includes SMA, fragile X, thalassemias, Gaucher and adrenal hyperplasia
- Covers the Spanish preconception screening consensus
- Signed clinical report · Turnaround 30 calendar days
Whole exome
~20.000 genes + couple analysis + autozygosity + complementary tests
- Coverage of the whole exome, not just a panel
- Joint analysis of the couple and risk calculation
- Autozygosity (shared segments): key in first cousins
- Includes the complementary tests (SMA, fragile X, thalassemias…)
Whole genome
WGS + couple analysis + autozygosity + complementary tests
- Everything in the whole exome, plus:
- Deep intronic and regulatory variants
- Copy-number alterations across the whole genome
- Complete mitochondrial genome
If you are relatives, the recommendation changes
When both members of the couple share a recent ancestor (for example, first cousins), they also share segments of DNA. That is why it is much more likely that both are carriers of the same recessive disease.
- Risk of congenital or genetic disease in the baby: approximately 4–6 % per pregnancy, compared with 2–3 % in unrelated couples.
- Probability that both carry a variant in the same recessive gene: much higher than in an unrelated couple.
- If you are both carriers of the same gene, each pregnancy carries a 25 % risk.
In these cases, a fixed panel of common diseases is not enough: the excess risk is spread across the whole genome. We recommend whole-exome sequencing for both of you, analysed jointly, with autozygosity, which maps the shared segments and looks exactly where it needs to look.
Why our test
- Expanded panelMore than 360 diseases in the extended modalities, including the most prevalent and the most severe.
- Real variants, not just SNPsWe detect real sequence variants (SNVs and indels) and, in the exome/genome modalities, also CNVs; not just the classic SNPs of commercial chips.
- Couple analysisWe cross the results of both to calculate the real transmission risk.
- Genetic counsellingIncluded: questions answered by email, before and after the test.
- 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.
Limitations and residual risk
- This is a screening test, not a clinical diagnosis: it does not replace medical assessment or genetic counselling.
- A negative result reduces but does not eliminate risk: genes not included, variants not covered (some deep intronic and regulatory), variants of uncertain significance (VUS) and de novo variants (~1–2% of any pregnancy) remain.
- VUS are not reported as carrier status.
- Detection is not 100% in complex regions (e.g. SMN1/SMN2, HBA1/HBA2, GBA1/GBAP1, CYP21A2) and in the FMR1 CGG expansion, where large expansions may require a confirmatory test.
- This is a preconception study: it does not report diseases the person may develop.
- Residual risk is higher in consanguineous couples.
- Short-read sequencing (NGS) with specific techniques. Laboratory certified ISO 9001:2015; not ISO 15189 accredited.
Plan with information
A simple test today can prevent years of uncertainty tomorrow. From €200 per person; four modalities available.