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Genetic Diagnosis

What is Genetic Diagnosis?

Genetic Diagnosis allows to learn the genetic basis of an inherited disease, and the information that may be obtained is fundamental to the decision making: 

1) Treatment: The genetic study can determine the most effective treatment for a pathology.

2) Evolution and prognosis: An inherited pathology can develop differently depending on the mutation that has caused it. The genetic diagnosis enables to anticipate its manifestation and to prevent it properly.

3) Avoid the transmission: A genetic alteration can be transmitted recessively, dominantly, depending on the sex, etc. By knowing it we can estimate the possibilities of transmitting it to the offspring, of being expressed and of avoiding its transmission to the offspring.  

4) Familiar study: The implications of a genetic test are also important for the affected family members, so the convenienve of extending it to other family members should be assessed.

Genetic services

Genetic compatibility

Study of the genetic compatibility between two persons with the aim of minimizing the possibility of a hereditary disease

Recessive diseases

Screening of recessive asymptomatic diseases  to avoid its transmission to the offspring

Gene panels

Simultaneous analysis of groups of genes  related with multigene-based pathologies

Analysis of CNV

Study of deletions or duplications in the genome related to genetic diseases

Prenatal diagnosis

Detection of hereditary patologies in the fetus from amniotic fluid or chorionic villus

Rare diseases

Genetic studies of low prevalency diseases through advanced techniques

Repeated miscarriages

Analysis of the genetic causes that provoke repeated miscarriages in certain couples

Hereditary cancer

Study of the risk of developing a cancer of hereditary origin 

Exome sequencing 

Analysis of all the coding regions of the human genome

Point mutations

Genetic study of thrombophilia, hemochromatosis, thalassemia, apoE, alpha-1-antitripsin, IL28, etc

What is the Genetic Counseling?

The Genetic Counseling is a personalized counseling about a genetic disease and the risk of being afected, of being the carrier and of transmitting it.   

For this counseling, the results of the genetic test report, the clinical history of the patient and the familiar data can all be assessed. 

What are the Prenatal Genetic Diagnosis and the Preimplantational Genetic Diagnosis?

The Prenatal Genetic Diagnosis consists in the use of genetic techniques that allow the detection of hereditary diseases in the fetus. It is performed from samples of amniotic fluid or biopsy of the chorionic villus (placenta tissue).

The purpose of the prenatal genetic diagnosis is to obtain the necessary information to adopt the most appropriate therapeutic or preventive measures to avoid the disease transmission.


The Preimplantational Genetic Diagnosis consists in the combination of assisted reproduction techniques and molecular diagnostic techniques. The preimplantational diagnostic allows the selection of healthy embrions obtained from people that carry genetic alterations.

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