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Laboratorio diagnóstico genético
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
Have you ever wondered why some people eat a lot and don’t put on weight? And conversely, why some people, despite a controlled diet, gain weight easily? As you can imagine, a good part of the reason lies in their genes. Although we don’t know the total number of genes involved, knowledge is growing. Here we explain everything you need
We will all have experienced it, the classmate who excelled in all sports. He or she stood out for speed, endurance, coordination and so many other sporting skills. And we’ve all wondered, is it heredity, is there really such a thing as “sport genes”? In this article, we will address this very question and you will discover how our genes
Genetic screening for breast cancer: its role in prevention and treatment Breast cancer is the most common malignant tumour in the West and the leading cause of death in women between 40 and 55 years of age in our country. Its number is increasing at an annual rate of 1-2%. Thanks to early detection and significant advances in the diagnosis
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 infertility? Infertility is a multifactorial disorder that affects approximately 15 per cent of couples of reproductive age. The causes of infertility are equally attributable to men and women. It can be defined as the inability to achieve or complete a pregnancy after a period of one year of sexual intercourse without contraception. What are the causes of fertility
What is preventive medicine? Preventive medicine focuses on the prevention and early detection of diseases, with the clear objective of improving patients’ quality of life. In other words, it focuses on knowing the individual characteristics of each patient with the aim of personalising and optimising their medical care and directing their lifestyle towards goals that will help to look after
What is personalised medicine? In personalised medicine, also known as precision medicine, patients are treated according to their individual circumstances. These individual circumstances mainly comprise their genetic background, lifestyle and personal circumstances. Its success is based on individual patient characterisation and appropriate pre-testing to determine what treatment may or may not be considered for a particular patient. The biological complexity
What is food intolerance? Food intolerance, also known as non-IgE-mediated food hypersensitivity or non-allergic food hypersensitivity, occurs when a person has difficulty digesting certain foods. Differences between food intolerance and food allergy Food intolerances are sometimes confused or mislabelled as food allergies, but they are different phenomena. ● Food allergies trigger strong immune system responses that affect numerous organs in
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
Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis abbreviated also as ATTR (hereditary form), or Corino de Andrade’s disease is a severe neurodegenerative genetic disease. It is rare, with an estimated 8,000 people affected worldwide. Foci of familial amyloid polyneuropathy The first cases were detected in northern Portugal in the 16th century. It was called “the foot disease”,
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
What is intellectual disability? Intellectual disability (ID) is the result of a disturbance in human development that appears before the age of 18. It is characterised by a significant limitation in intellectual functioning and adaptive behaviour. In other words, the concept encompasses people whose cognitive resources are often less than expected for their chronological age. What types of intellectual disabilities
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