Genetic Diagnostic

What is the Genetic Diagnostic?

The Genetic Diagnostic allows the knowledgment of the genetic basis of an inherited disease and the obtained information is fundamental to make some decisions: 

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

2) Evolution and prognosis:  An inherited pathology can process on a different way according to the causative mutation. The genetic diagnostic enables to overtake its manifestation and to`prevent it properly.

3) Avoid the transmission:  A genetic alteration can be transmitted depending on the sex, in a recessive or dominant way (etc.)  By knowing it we can estimate the possibility that it could be transmitted to the descendants, that it could manifest and we are able to avoid its transmission to the descendants.  

4) Familiar study: The implications of a genetic test are also important to the affected's family members, hence, it should be taken by the rest of the family as well.

What is the Genetic Advise?

The Genetic Advice is a personalized report that contains a guidance to the individuals and their families about a genetic disease and the risk of being infected, being the carrier and transmit it.   

In the report the results of a genetic test, the clinical history of the patient and the familiar data are all valued. 

Genetic services

Rare diseases

Genetic studies of low prevalency diseases through advanced techniques.

Repeated miscarriages

Analysis of the genetic causes that provoke repeated miscarriages in specific couples.

 Inherited cancer

Study of the risk of developping an inhereted origin cancer

Sequencing exome

Analisys of all the coding regions of the human genome.

Point mutations

Genetic study of thrombophilia, hemocromatosis, thalassemia apoE, alpha-1-antitripsina, IL28, etc

Genetic compatibility

Study of the genetic compatibility between two people with the aim of minimizing the possibility of an inhereted disease.

Recessive diseases

Study of recessive diseases aimed at avoiding the transmission.

Panels of genes

Simultaneous analysis of genes groups related with multigenetic pathologies.

Analysis of the CNV

Study of the risk of developping an inhereted origin cancer.

Prenatal diagnostic

Detection of inheredited patologies in the fetus from the amniotic liquid or chorionic villus.

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

The Prenatal Genetic Diagnostic consists in the use of genetic techniques that allow the detection of inherited diseases in the fetus.

It is carried from the amniotic liquid sample or biopsy of the chorionic villus (placenta tissue)..

The purpose of the prenatal genetic diagnostic is to obtain the necessary information to adopt the most appropriate terapeutic or preventive measures to avoid the pathogen transmission.

The Preimplantational Genetic Diagnostic consists in the combination of assisted reproduction techniques with the molecular diagnostic techniques.

The preimplantational diagnostic allows to select healthy embrions obtained from genetic alterations carrier.