We are Qualified Genetic Specialists & Correct Test Interpretation is our Expertise

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).

Other reasons for genetic disorders include a combination of environmental factors and gene mutations or chromosome damage. Increasingly, in the modern day, the term 'genetic disorder’ is used to denote a disease attributed to a DNA sequence change. However, we must not overlook the major impact of chromosomal and other forms of inheritance on the genetic disease load in a population.

Test Interpretation Challenges 

In clinics like our own, the task of identifying the genetic change that has caused a patient's condition is a common challenge. Genetic testing is now widely used in medicine, although the true challenge lies in the correct interpretation of test results. 

Test interpretation is our specialty at Genetics.ie and our particular focus is on establishing the relationship between the patient's clinical presentation and the genetic test data. This is known as "cause and effect", and it is surprising how frequently this fundamental link between DNA variation and clinical consequence is an area of confusion for patients and their doctors when dealing with genetic disease.

As more medical research is carried out on the human genome, we're learning that there's a genetic component to a much wider range of disorders than was previously understood. Thousands of diseases are caused by inherited mutations from parents at birth, cystic fibrosis being a particularly frequent instance of such inheritance in Ireland, whereas others are random acquired mutations in a gene not present in either parent. This phenomenon is known as de novo mutation but is every bit as likely to result in clinically significant genetic disease as mutations inherited from either or both parents.

Helping You Make Important Life Decisions

If you're in need of genetic testing to determine your or your family's risk of a genetic disorder, you can trust the Genetics.ie team to interpret your results accurately, as it's our field of expertise. Carried out at our clinic under the watchful eye of our founder and owner, Dr Willie Reardon, you couldn't be in better hands. 

To know more about us and our full range of genetic testing services, visit us today online at www.genetics.ie. Alternatively, to speak to a member of our team, call 087 4037149, and we'll be happy to give you the help you need.