Genetic Diagnosis

ER Map test 2. Genetic DiagnosisBeing one of the leading international laboratories in the genetic consultancy sector, at PGD Labs we utilize an essential tool: genetic diagnosis.

This genetic analysis allows the genetic basis of a hereditary disorder to be known. It is therefore useful to prevent the transmission of hereditary disorders. This diagnosis helps people who have a record of genetic or chromosomal diseases.

Genetic diagnoses are performed as part of IVF programs both on embryos and on ova

Genetic diseases are caused by disorders in hereditary material. In fact, they constitute a high number of human diseases both in children and adults. Thanks to the many breakthroughs in the analysis and comprehension of the human genome, we can know the genetic causes of many hereditary diseases.

It is known that approximately 3% of newborns have some kind of genetic anomaly or disease and that 8% of the population is prone to developing one before age 25. Diseases such as the Marfan or Rett Syndrome, or Cystic Fibrosis, are some of the most common ones that are transmitted from generation to generation.

What will we prevent by performing a Genetic Diagnosis?


We will be able to determine the most effective treatment against a disease. Genetic disorders affect a specific gene directly, as opposed to chromosomal disorders, which alter a number of chromosomes or their structure.

This disease can evolve differently depending on the mutation that causes it. Thanks to this analysis, we will be able to stay one step ahead of its occurrence and optimally prevent it.

We will know the probability of this disease being transmitted to the baby and thereby prevent that from happening.


Methods used in the genetic tests


  • 1. Molecular genetic tests. Study of single genes to identify certain variations or mutations that lead to a genetic disorder.
  • 2. Chromosomal genetic tests. Analysis of entire chromosomes or long chains of DNA to study whether there are genetic changes, such as an additional copy of a chromosome, which will lead to a genetic condition.
  • 3. Biochemical genetic tests. Study of the protein quantity and type of activity. Any anomalies found will point to changes in the DNA, and therefore, to a genetic disorder.


Are you interested in performing a genetic diagnosis with us? You can get in touch with PGD Labs by e-mail at or by calling 965 969 38 400. You can also submit our contact form.