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.
Secure Risk is an advanced genetic screening that focuses on assessing the risk of common diseases with multiple causal factors.
This test is used to determine the polygenic risk, which helps identify those individuals who are at higher risk of suffering from any of these diseases.
Secure Risk offers multiple benefits:
% Secure Risk = Poor eating habits, AlcohoL, age, diabetes, overweight, tobacco, high blood pressure, hormones, environment and hyperlipidemia
The immune response is a complex, multifactorial phenomenon influenced by various factors, including an individual’s genetic background. Deficiencies in immune function may be associated with specific genetic variants and polymorphisms. As such, genetic studies can play a crucial role in managing autoinflammatory and autoimmune diseases, helping to guide personalized therapeutic strategies.
Moreover, the relationship between maternal-fetal immunological rejection and implantation failure has been extensively studied, with particular attention to the relevance of KIR-HLA-C genotyping in this context.
It is essential to receive appropriate genetic counseling before undergoing genetic testing, as well as to identify individuals who may benefit from such analyses.
Relevant Conditions:
More than 200 genes have been identified with alterations associated with the development or increased risk of haematological disorders.
Advances in human genetics and molecular biology techniques now enable diagnostic confirmation, allowing healthcare professionals to tailor personalized treatment strategies and improve patient outcomes.
Understanding the genetic basis of these conditions also facilitates carrier screening in at-risk family members and allows for the implementation of preventive and monitoring measures in the presence of suggestive symptoms.
Relevant Conditions:
Send an email to: info@nuumagenetics.com
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