Genetic diagnostic technologies

Thanks to different genetic diagnostic technologies, we can analyse and evaluate a person’s genes.

Genetic diagnostic technologies comprise scientific techniques and methods to analyse a person’s genes in relation to their predisposition to certain diseases or other conditions (allergies and intolerances), to confirm a diagnosis or, sometimes, to determine the best treatment in case of disease.

The evolution of a better understanding of the molecular basis of human pathology and of genetic diagnostic technologies has allowed these technologies to be used today not only in basic research and clinical research but also as common tools in daily clinical practice, for preventive, diagnostic and prognostic purposes. Especially in recent years we have seen the exponential growth of massive sequencing techniques (next generation sequencing, NGS). As a result, it is now possible not only to carry out a targeted molecular study of certain diseases (necessarily based on a well-founded clinical suspicion) but also a complete, more exploratory analysis of a patient’s genome or the coding part of it, the exome.

Below, we detail all the genetic diagnostic techniques that we offer in our laboratory. By clicking on each of them, you will find a detailed description, as well as the indications established in relation to the different types of genetic diseases.


A set of techniques to determine differences (genetic variants or mutations) in the genetic make-up (genotype) of an individual by targeted analysis of genetic information

Molecular cytogenetics

Techniques combining molecular biology and cytogenetic methods to analyse the number, structure and morphology of chromosomes and to detect possible abnormalities

Massive sequencing

Techniques that allow the rapid, accurate and cost-effective analysis of large amounts of DNA in massively parallel fashion to detect variants or mutations associated with diseases

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