The genetic tools currently available to us at Nuuma also allow us to diagnose a large number of diseases in almost every medical speciality.
Knowing the causative genetic alteration of a certain pathology allows us to determine the prognosis, select appropriate treatments, and provide adequate genetic counselling. The most frequent alterations are related to the following fields:
A large number of genes can present alterations responsible for certain heart diseases with a hereditary component, and these have become increasingly well known in recent years.
Patients with suspected cardiomyopathies (e.g., dilated or arrhythmogenic hypertrophic cardiomyopathy), as well as syndromes with arrhythmias (e.g., atrial fibrillation and Brugada and QT syndromes) may benefit from studying a gene panel including the genes involved. This is because the results may have diagnostic, prognostic, and therapeutic utility.
Therefore, genetic counselling before and after the study is important.
Hereditary arrhythmia syndromes
Cardiomyopathies
Neurological diseases affect the central and peripheral nervous systems, including the muscles. There are several genetically based neuromuscular diseases (including muscular dystrophies, myopathies, muscular atrophy, and ALS, etc.) whose causes can be studied using genetic testing technologies.
Similarly, many diseases that affect the central nervous system (ataxias, epilepsies, and cognitive alterations) sometimes have a genetic origin.
As for other genetic diseases, counselling is essential to be able to establish the best approach to the genetic study in the context of each patient and their family.
Cancer is a disease that results from the abnormal and uncontrolled growth of cells. It can affect the entire population and is caused by genetic alterations in a certain group of cells (a primary tumour), which can also spread (metastasis). Up to 10% of cancers have a hereditary genetic origin. That is, the genetic alterations are found in the germ cells (oocytes and spermatozoa) and are what we know as hereditary cancers.
Currently, we know of several dozen high and medium penetrance genes in which pathogenic changes increase the risk of cancer in carriers. It is important to identify people at risk from these alterations in order to provide them with genetic counselling and carry out the relevant genetic studies.
More and more hereditary eye diseases are being discovered, which makes genetics a very useful tool in the diagnosis and treatment of these diseases.
At Nuuma, we have next-generation sequencing (NGS) panels that include the genes of interest for the main genetic ophthalmological diseases such as retinitis pigmentosa, glaucoma, and other types of corneal and retinal dystrophies.
The use of genetic testing allows us to offer patients benefits in terms of accurate diagnosis, prevention, and genetic counselling for the following diseases:
Neurodevelopmental disorders are complex diseases with high levels of genetic heterogeneity.
To address the diagnosis of these diseases, adequate genetic counselling and a combination of techniques (such as CGH-array and massive sequencing) are required to find the genetic alteration causing each disorder.
Genetic diseases caused by alterations of connective tissue and its derivatives (comprising bones and muscles and which can affect other organs) are grouped under this heading.
Send an email to: info@nuumagenetics.com
or call us at +34 672 029 313
