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Laboratorio diagnóstico genético
GenoMaterniT+, a safe and reliable non-invasive prenatal test GenoMaterniT+ is a non-invasive prenatal test that allows early detection of trisomies of chromosomes 21, 18, 13, X and Y in the foetus. It is performed on a sample of maternal blood between weeks 10 and 24 of gestation. For this purpose, free foetal DNA in maternal blood is analysed by means
GenoNatal® is an expanded neonatal screening test that can detect 43 congenital metabolic diseases, food intolerances such as coeliac disease and lactose intolerance, and genetic deafness. What is a metabolic disorder? Metabolic diseases are rare disorders in which the body is unable to transform food properly. As a result, there is a build-up of compounds in the blood causing toxicity
What is genetic counselling? Genetic counselling is a communicative process that serves to inform, educate and support patients and families with a suspected or confirmed diagnosis of genetic disease.During the consultation, the genetic counsellor will ask you about your personal and family health history. Based on this information, he or she can determine the likelihood that you or a member
Exome: the fast and cost-effective solution for analysing all genes of an individual Exome analysis is a genetic study that allows the analysis of all the genes of an individual. It can be used both: ● To obtain information on all those genes known to be related to a given pathology. With this approach, the probability of identifying a mutation
What is pharmacogenetics or pharmacogenomics? Pharmacogenetics, also known as pharmacogenomics, is the study of how a person’s genes affect the way they respond to medicines. In other words, research in the field of pharmacogenetics is aimed at revealing the actions and interactions between drugs and individuals based on their genes. In other words, they study the effect of an individual’s
What is genetic testing? A genetic test or genetic screening is a test carried out in a laboratory to analyse genes. Genes are the instructions contained in the DNA that we inherit from our parents. Sometimes these instructions contain variants or defects known as mutations that can predispose, be the cause or one of the causes of health problems and
The paternity test aims to determine the biological relationship between two people. In other words, it allows us to determine who is the biological father or mother of a child. An extension of this type of analysis is kinship testing, which allows us to determine other types of family relationship: siblings, grandparents, aunts, uncles, cousins, etc. A paternity test can