Our Experience Makes all the Difference

At Genetics.ie, we offer a wide range of genetic testing services from our Blackrock clinic, and our expertise combines the appropriate marrying of clinical evaluation for genetic disorders with appropriate targeted genetic testing. One of our major strengths is in correct test interpretation. Genetic disorders can result from a mutation in a single gene (monogenic disorder) or the interaction and combination of genetic variants in several genes, which may impact upon one another (multifactorial inheritance disorder).

The Genetics.ie team offers a variety of genetic testing services from our Blackrock clinic under the watchful eye of highly experienced Clinical Geneticist and founder Dr Willie Reardon. During his 35+ years at the world's leading hospitals, the single most common cause of medical error he’s seen is a lack of understanding of the link between gene testing, interpretation of results and recognition of disease causation.

Genes are responsible for every aspect of the cardiovascular system, from the way heart cells communicate to the strength of blood cells. As such, a genetic mutation (disease-causing variant) in a single gene can increase the likelihood of developing heart disease.

Cardiovascular diseases can be inherited by children from their parents. This is why other family members are encouraged to undergo genetic screening for risk factors when a loved one is diagnosed with heart disease or heart disorder.

At Genetics.ie, we regularly bring you blogs like this one to help our readers understand genetic testing and how it helps people obtain important information about their health. Today, we look at something known as Cascade Testing and who can benefit from it.

Cascade testing refers to the process that occurs when a genetic condition is discovered within the family, whereby other family members are informed and tested for the same condition. Many are not aware of having a genetic condition until its symptoms begin to affect their lives.

The Genetic testing team offers a comprehensive range of genetic testing services from our Blackrock clinic. Under the stewardship of our founder, the highly experienced Dr Willie Reardon - someone with more than 35 years of experience at the world's leading hospitals - we help people of all ages access important health information.

The process of medical diagnosis involves the identification of a disease or condition from its signs and symptoms. Longstanding essential elements of this process are the clinical history of the disorder, and the appropriate clinical examination findings. These, in combination, inform the Consultant as to the direction of appropriate investigation.

Neuromuscular diseases are known for affecting muscle function, resulting from issues with nerves and muscles, and the most common symptom is weakness. Affecting around 14m people around the world, neuromuscular diseases are often diagnosed through genetic testing.

In this article, we look at the benefits provided by genetic testing in relation to neuromuscular disorders, with the first being it allows more patients to get a definitive diagnosis. This provides closure, as well as advice on progression, prognosis and treatment.

While not all neuromuscular diseases can be described as genetic disorders, many

are genetically determined. As such, genetic disorders are caused by gene variants, which are sometimes inherited from your parents. Each person has around 23,000 different genes, and genetic mutations within these genes are often the cause of genetic disease, even in the absence of a family history of the disorder.

Rare diseases have been an increasing focus of attention over the last few years, with an EU definition of rare disease being 1 in 2000 people or fewer affected. According to science, there are more than 7,000 rare diseases, and between them, in the region of, 350 million people around the world are affected. While they affect just a small number of individuals, rare diseases represent a significant source of morbidity and adverse impact.

What is a rare disease? Officially speaking, a rare disease (RD) is one that affects fewer than five people out of every 10,000. When a rare disease is diagnosed, it can have a major impact on the individual and their extended family, and the majority of rare neurological diseases have an underlying genetic cause.