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.
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.
Myotonic Dystrophy & Our Diagnostic Expertise
The main characteristics of myotonic dystrophy are progressive weakness and wasting of the muscles. Those with this disorder often experience involuntary muscle contractions (myotonia), such as not being able to release their grip on a door handle.
Dr Willie Reardon: Expert Medico-Legal Witness Since 1996
Dr Willie Reardon is the founder of Genetics.ie, a company that offers a wide range of genetic testing services, from testing for muscular dystrophies to chromosome disorders. Today, we look at his experience as a medico-legal witness - something he has been doing around the world for over 25 years.
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 Karyotyping & What Is Its Purpose?
The procedure known as Karyotyping is an investigation undertaken by a Clinical Geneticist to examine the chromosomes of an individual patient. The purpose of examining the chromosomes is to determine whether any structural issues or abnormalities exist within them
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 Genetic Counselling?
Basically, genetic counselling refers to providing genetic information, direction as to services and support - something that allows them to make informed decisions about their health - both when the information is positive and negative. However, counselling is always based upon a secure genetic diagnosis.
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.