The Benefits of Genetic Testing for Neuromuscular Diseases
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.
Inherited Neuromuscular Diseases & How Genetic Testing Helps
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.
What Have Genetics Got to Do with Rare Diseases?
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.
Rare Diseases & the Role of a Clinical Geneticist
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.
Worried About Your Family Medical History? How Genetic Testing Can Give You Answers
Genes play a huge role in who you are. They determine the essence of who you are, from your athletic ability to hair colour to your likelihood of inheriting certain diseases from your parents. Sadly, as well as inheriting your personal characteristics, gene 'changes’ can be passed down, increasing the risk of developing illnesses like cancer.
Explaining Paediatric Geneticists & What they do
At Genetics.ie, we offer a wide range of genetic testing services from our Blackrock clinic under the supervision of Dr Willie Reardon. When we're not providing our patients with answers to life's most important questions, we're creating blogs like this one that educate our readers on various aspects from within our field.
Genetic Disorders - The Basics
At Genetics.ie, we offer a wide range of genetic testing services from our Blackrock clinic under the supervision of our founder, Dr Willie Reardon. To help you understand our services better, we're here to give you a brief overview of genetic disorders and why they occur.
Essentially, we all inherit our chromosomes from our parents, which typically comprise 23 pairs. Randomly, children get one of each pair of chromosomes from their father and another from their mother. An XX pair means a baby girl with an XY, a boy.
What is Non-invasive Prenatal Screening(NIPS) & What is it for?
Hello, and welcome to the latest from Genetics.ie, in which we provide some insight into the sphere of genetic testing in the clinical context. From our Blackrock Clinic base, our team provides a wide range of genetic testing services that provide patients with important information about their health.
Today, we're here to talk about one particular service our team offers - non-invasive prenatal screening (NIPS), explaining what it is and why it's performed. We'll start by taking a look at the definition of the term.
What is Trisomy 21 & how is it Diagnosed?
Trisomy 21 is the most prevalent chromosomal anomaly in human beings, also referred to as Down Syndrome, Trisomy 21 is a genetic condition that's characterised by an extra chromosome.
Sudden Adult Death Syndrome (SADS) & The Relevance of Genetic Testing in This Situation
At Genetics.ie, we offer a wide array of genetic testing services under the supervision of Dr Willie Reardon, someone with much experience in his field. Today, we're here to talk about a condition known as Sudden Adult Death Syndrome and how genetic testing can help.
Genetic Testing in Heart Disease
At Genetics.ie we offer a wide range of genetic testing services and today we’re here to talk about its relevance to those with heart disease. Specifically, there are genetic disorders of cardiac function, which may be the underlying reason for the cardiac problem in an individual and their family
Myotonic Dystrophy Explained: A Genetic Condition We Specialise in Diagnosing
As part of a group of inherited disorders known as muscular dystrophies, myotonic dystrophy is the most common form that begins in adulthood. It is characterized by progressive muscle-weakening and wasting and it is a genetic condition, frequently overlooked, that we specialise in diagnosing.
What is The Purpose of Carrier Testing & Who Is It For?
Essentially, carrier testing (a.k.a. carrier screening) is a form of genetic test that determines whether an individual carries a gene for a specific genetic disorder. Usually conducted either before or during pregnancy, it’s an important step taken to identify a couple’s chances of having a child with the same genetic disorder.
What Is Clinical Genetics?
What is clinical genetics? Well, essentially, clinical geneticists are Doctors that specialise in the identification and diagnosis of genetic diseases. Moreover, clinical genetics pertains to the diagnosis, management and counselling of patients affected by genetic conditions, as well as their families.
Clinical Genetic Services - Explaining How We Work
At Genetics.ie, we offer a wide range of genetic testing services for all manner of requirements, covering newborn screening, chromosomal testing and diagnostics to our patients. Our approach focuses on a commitment to the highest standards of patient care and excellent communication throughout.
In this article, we provide an overview of how we work, so that you know precisely what to expect when engaging with our testing services. We understand that these matters are often stressful and worrying, however, we will do our utmost to make the whole process as painless as possible.
What To Expect When Using Genetics.ie Services
At Genetics.ie, our goal is to provide prompt, consultant-delivered genetic testing that reflects not only our expertise and experience, but also our commitment to meeting highest clinical standards and most-informed patient care. We offer a wide range of genetic testing, screening and diagnosis services to patients across Ireland from our Blackrock-based clinic.
Genetic Testing & Why the Information it Provides Is Vital
Found within the strands of your unique DNA are genes, which are passed down to you by your parents, playing a central role in how your body regulates and grows. However, when these genes result in abnormality, the natural consequence of which is a genetic disease.