The role of genetics in fertility diagnosis

In recent decades, more and more people have been unable to realise their dream of having children. There are many factors, including genetic factors, that affect the fertility of women and men.

In recent years, genetic diagnosis and counselling have acquired a relevant role in cases of infertility and recurrent miscarriages, making it possible to clarify the cause of these problems and also to propose solutions in a high percentage of cases. At Genosalut we have been advising and helping couples who wish to have children for more than 10 years.

In up to 30% of cases of fertility problems the cause may be genetic. At Genosalut we analyse the genetic causes, both common and less frequent, of fertility problems in women and men.

Our offer for doctors and their patients

We work with referring physicians

We work closely with referring physicians to determine which tests to order for their patients based on both the medical and safety needs of the prospective parents.

Genetic counselling

We offer patients pre- and post-test genetic counselling to help them understand the implications of genetic testing and the results.

Wide range of tests for the diagnosis of fertility problems

We offer multiple tests for the diagnosis of female and male fertility problems.

Rigorous interpretation of results and applicability

Based on our knowledge and experience, we can interpret the genetic (and possibly clinical) results rigorously and make recommendations on possible problems, possibilities and family counselling.
This statistical support and clinical significance is absolutely essential, as it provides added value in terms of quality and differentiation compared to other products on the market.

What fertility diagnostic tests do we offer at Genosalut?

Conventional chromosome analysis can detect major changes in the number (numerical abnormalities) and structure (structural abnormalities) of chromosomes that may be responsible for fertility problems.

Chromosomal abnormalities are relatively common in humans and are among the most frequent genetic causes of infertility, recurrent miscarriages and birth of affected offspring.

The Y chromosome contains genes essential for spermatogenesis and proper development of the male gonads. Microdeletions on the Y chromosome are the leading genetic cause of infertility, with a prevalence of 10-15% in cases of non-obstructive azoospermia and 5-10% in cases of severe oligospermia.

There are three regions on the long arm of the Y chromosome (Yq) that have been defined as ‘spermatogenesis loci’: AZFa, AZFb and AZFc. Complete deletions in the AZFa region are associated with the absence of germ cells, deletions in the AZFb region result in a blockage of spermatogenesis in primary spermatocytes, and deletions in the AZFc region present a more variable phenotype.

Sperm DNA fragmentation may be behind fertility problems such as low fertilisation and pregnancy rates, low embryo quality and an increase in miscarriage rates (even in those cases in which the other parameters analysed in the semen sample are normal).

At Genosalut we have the Comet test and the sperm chromatin dispersion test.

The most frequent mutations in individuals with fertility problems are those affecting the CFTR gene. These mutations are responsible for cystic fibrosis, and one of its manifestations is the absence of vas deferens in the testicles. Between 60 and 90% of infertile patients with absent vas deferens are carriers of this mutation.

Mutations in the AR gene, located on the X chromosome, cause a variety of defects collectively known as androgen insensitivity syndrome. Its product, the androgen receptor, plays an important role in meiotic progression and, possibly, in the formation of round spermatids. Mutations in AR cause azoospermia and affect 2% of the infertile patient population.

In case of early ovarian failure or juvenile menopause due to low ovarian reserve, the FMR1 gene is analysed, as 20% of women with a premutation in this gene have premature ovarian failure.

Complete exome or genome analysis to identify the causes of infertility in women and men. We analyse the results based on extensive research in the scientific literature and our own experience. We take into account common and rare genetic causes of infertility.

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Monday to Friday from 9.00 am to 1.00 pm

Phone number

+34 616 59 01 65



Camí dels Reis, 308 (Clínica Palma Planas)

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Reasons for trusting Genosalut

First genetic diagnosis laboratory in the Balearic Islands

Professionals with experience in medical genetics

Detailed report of the results

Personalised attention for each patient

Wide range of genetic tests

Cutting-edge technology