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.
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.
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 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.
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.