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.
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.
Chromosomal Disorders, Down Syndrome & Genetic Testing
At Genetics.ie, we offer a range of testing services that give patients the important information they need about themselves and their family's health. One area in which we have much experience is in the testing of chromosomal disorders.
What is Collagenopathy?
Collagenopathy is a term that covers a group of rare disorders that affect the body’s connective tissue. Connective tissue supports the body’s organs and joints, providing a framework for the mechanics of internal organ position and function and collagenopathies refer to disorders of collagen which may manifest clinically in disorders such as excess joint laxity, weakness of the arteries, propensity to haemorrhage, scoliosis and a host of other clinical signs.
Muscular Dystrophy - What is it & How is it Diagnosed?
The term muscular dystrophies (MD) describes a group of genetic conditions which cause the muscles to gradually weaken, resulting in increasing disability. MD is a progressive condition, meaning that it worsens over time, often affecting a particular muscle group before eventually affecting others on a more widespread basis.
Who is Dr Willie Reardon - the Founder of Genetics.ie?
All genetics testing services offered by Genetics.ie are carried out under the supervision of Dr Willie Reardon. As you can see, his experience and expertise spans many decades at some of the world’s most prestigious medical institutions. As such, as a patient with us, you’re in very good hands, irrespective of the service required.
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
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.
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.
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.