Genetic compatibility test

Prevention of hereditary diseases before pregnancy

The genetic compatibility test is a key tool in assisted reproduction to identify possible genetic mutations and prevent the transmission of hereditary diseases. At Fertility Madrid, we offer a complete study with specialized counseling, allowing us to determine compatibility between partners or with a donor. In this way, we can select the best reproductive option and ensure a pregnancy with greater health guarantees for the future baby.
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What are genetic compatibility tests?

Genetic compatibility tests are designed to help future parents have healthy children. We are all at risk of having a child with a genetic condition, even if there is no family history or symptoms of the disease. The genetic make-up of the parents determines the risk of their child inheriting or developing a genetic disorder.

These tests are an accurate and powerful genetic tool, created to determine the likelihood of being a carrier of around 500 relevant monogenic diseases that follow an autosomal recessive or X-linked inheritance pattern. Our testing is guided by the recommendations of leading professional medical organisations and scientists.

The results can be used to support decision-making regarding reproductive options and/or the medical care of the child. Since genetic conditions can vary in frequency and severity, to help you understand the implications of your test results, we have divided the diseases into four groups according to their frequency of diagnosis, their impact on life expectancy and quality of life, the possibility of treatment, and their inheritance pattern.

Genetic counselling

Genetic counselling consists of personalised consultations that allow patients to better understand their genetic health and the potential risk of passing on hereditary diseases to their children. This support is also key to identifying the most appropriate genetic tests and fertility treatments to reduce or avoid such risks.

Our genetic counsellors may recommend some of the most advanced tests available today, ensuring that everyone has the opportunity to build a healthy family, with no exceptions and backed by the latest science.

Advantages of taking a genetic compatibility test

  • Confidence and expertise: more than 700,000 samples analysed to date and over 340,000 published cases.
  • Diseases selected for their severity, prevalence, and clinical actionability.
  • Detection rate greater than 99% for most conditions.
  • Constant analysis and real-time updating of variant databases by a team of expert geneticists.
  • Results available within 30 working days.

How is a genetic test performed?

Our clinical geneticist begins by collecting detailed information about your health and your family’s medical history. From this information, a family tree of at least three generations is created, which makes it possible to visualise potential hereditary disease patterns.
This genealogical evaluation, combined with your personal medical history, helps identify the type of hereditary disorders that may be present in your family.
To refine the diagnosis, the geneticist may recommend consultations with other specialists or additional specific tests, such as:

  • Chromosomal analysis
  • Examination of genetic mutations (congenital changes in genes)
  • Biochemical studies
  • Diagnostic ultrasound
  • Any other laboratory or imaging test that may be necessary

This comprehensive approach makes it possible to obtain an accurate diagnosis and design a treatment or prevention strategy tailored to your reproductive and health needs.

Who are genetic compatibility tests recommended for?

  • Couples considering parenthood, either through Assisted Reproduction techniques or naturally.
  • Couples wishing to know the genetic compatibility of donors (eggs or sperm).
Couples who are considering becoming parents

We are all at risk of having a child with a genetic condition, even if there is no family history or symptoms of the disease. The parents’ genetic make-up determines the risk of their child inheriting or developing a genetic disorder.

In the case of a high-risk result
In a small number of cases, both parents are carriers of the same genetic condition. When this happens, there is a risk that their child may be affected by the disease.

In such cases, there are different reproductive options:

  • Prenatal diagnosis during pregnancy
  • IVF (ICSI) with PGT
  • Using egg or sperm donation
Genetic compatibility of donors

A gamete donation is a highly controlled process. We ensure that donors are physically and psychologically healthy, review their medical history, and check that their blood group is compatible with that of the recipient couple.

New technologies, such as genetic compatibility tests, also allow us to check genetic compatibility with our patients.

In the case of a high-risk result
If the donor is a carrier of the same disease as the partner, this would be considered a high-risk situation.

When this occurs, there is a risk that the child may be affected by the disease.

In such cases, the solution is simple. We cannot allow this risk in gamete donation, so we would proceed to find a new donor and restart the genetic disease screening process with this new donor.

CarrierTest and detection of genetic disorders

CarrierTest is an advanced genetic test that identifies whether one or both future parents are carriers of specific genetic mutations that could lead to serious diseases in their children.
Many people are healthy carriers of recessive genetic mutations, meaning they show no symptoms or illness. However, if both partners carry a mutation in the same gene, there is a significant risk of having an affected child.

CarrierTest detects the hidden transmission of more than:

  • 2,000 key common mutations
  • In more than 80 recessive genes
  • Associated with over 75 genetic diseases, including: cystic fibrosis, spinal muscular atrophy, congenital metabolic disorders (such as phenylketonuria), visual and hearing impairments, musculoskeletal disorders and skin diseases.

In addition, this test can identify mutations related to:

  • Fertility problems, such as thrombophilia or altered hormonal response
  • Genetic factors modifiable by lifestyle, such as haemochromatosis or alpha-1 antitrypsin deficiency
Who is CarrierTest suitable for?

CarrierTest is ideal for any couple planning a pregnancy, whether naturally or through assisted reproduction. This test makes it possible to confirm or rule out the presence of key genetic mutations, although it is important to keep in mind that it does not detect every possible mutation in the analysed genes.

For this reason, the results provide an estimate known as the “residual risk of transmission”, meaning the remaining probability that the baby could inherit a genetic disease even if the test does not detect mutations.

The test focuses on specific, frequent mutations, providing clear results: the mutation is either present or not present. This information is used to assess the couple’s genetic compatibility and make informed reproductive decisions.

Frequently asked questions about the Genetic Compatibility Test

What are genetic compatibility tests and what are they for?

Genetic compatibility tests analyse the DNA of an individual or a couple to detect whether they are carriers of mutations that could be passed on to their children. In assisted reproduction, the genetic compatibility test helps reduce the risk of serious hereditary diseases.

What does genetic counselling in fertility involve?

Genetic counselling is a specialised consultation in which a geneticist analyses your personal and family history. They advise you on the risk of passing on hereditary diseases and recommend the most appropriate genetic test before a natural pregnancy or assisted reproduction treatment.

What are the advantages of taking a genetic compatibility test?

Taking a genetic compatibility test offers multiple benefits:

  • Detects more than 99% of mutations associated with serious diseases.

  • Allows the selection of embryos free from hereditary conditions.

  • Incorporates updates from international genetic databases.

  • Provides peace of mind to couples before starting a pregnancy.

  • Delivers fast, reliable results in less than 30 working days.

How is a genetic compatibility test performed?

The genetic compatibility test is carried out using a blood or saliva sample. The geneticist analyses your DNA for mutations and prepares a report with the results. At Fertility Madrid, family history is also studied to design a personalised prevention or treatment strategy.

Who should take a genetic compatibility test?

The genetic compatibility test is recommended for:

  • Couples planning to become parents, naturally or through assisted reproduction.

  • Patients who require egg or sperm donation and wish to check genetic compatibility with the donor.

  • Individuals with a family history of hereditary diseases.

What is the CarrierTest and what does it detect?

CarrierTest is an advanced genetic compatibility test that identifies whether future parents are healthy carriers of mutations in more than 80 recessive genes. It detects over 2,000 mutations linked to more than 75 serious diseases, including cystic fibrosis, spinal muscular atrophy, and congenital metabolic disorders.

Who is the CarrierTest suitable for?

CarrierTest is recommended for:

  • All couples wishing to have children who want to reduce the risk of hereditary diseases.

  • Couples in which one or both partners are known carriers of genetic mutations.

  • Patients using donor eggs or sperm who need to confirm genetic compatibility.

How reliable is a genetic compatibility test like CarrierTest?

CarrierTest has an accuracy rate of over 99% in detecting relevant genetic mutations. Thanks to next-generation sequencing (NGS) technology and the continuous analysis of international databases, it is considered one of the most reliable tests in reproductive medicine.

What happens if the genetic compatibility test detects a mutation?

If both partners are carriers of the same mutation, there is a risk of passing the disease on to their child. In these cases, the medical team may recommend in vitro fertilisation with preimplantation genetic testing (PGT) to select healthy embryos before transfer to the uterus.

How long do the results of a genetic compatibility test take?

The delivery time for results varies depending on the type of test:

  • CarrierTest: 2 to 3 weeks

  • Chromosomal or specific tests: 2 to 4 weeks

  • Other complementary genetic studies: up to 30 working days