Medical Diagnoses & How Genetic Testing Can Help

The process of medical diagnosis involves the identification of a disease or condition from its signs and symptoms. Longstanding essential elements of this process are the clinical history of the disorder, and the appropriate clinical examination findings. These, in combination, inform the Consultant as to the direction of appropriate investigation.

 Such investigations can take many forms, such as biopsies, imaging tests, biochemistry tests of blood and/or urine and genetic testing. Sometimes referred to as genomic testing, genetic testing identifies changes at DNA level that can highlight the true cause of health symptoms and underlying diseases.

Used to find changes in chromosome structure or DNA sequence, genetic testing can also involve the measurement of the results of genetic changes, by functionally analysis such as RNA or protein function analysis. Primarily employed to diagnose rare and inherited health conditions, genetic testing can give you the answers you need to make important health decisions. 

Why Might I Be Offered Genetic Testing?

There are instances when genetic testing will be suggested by your doctor, such as if you have a health condition that is suspected to be caused by a change to one or more of your genes. Other reasons for genetic testing include:

  • A family member has a health condition caused by gene changes. 

  • Close relatives who've had a particular type of cancer that may be inherited.

  • You or your partner have a health condition that might be passed on to your children.

Genetic testing can be useful in a number of ways, such as:

  • Helping to diagnose a rare health condition in a child.

  • Providing an understanding of how an inherited health condition may affect you, your child or another family member to allow you to decide whether or not to have children. 

  • Highlighting if you are at a higher risk of getting certain health conditions. 

  • Guiding doctors on which treatment to provide. 

Giving You Answer to Life's Important Questions

From our Blackrock Clinic, the Genetics.ie team offers a range of genetic testing services under the watchful eye of our founder, the highly experienced Dr. Willie Reardon. Whether you’re planning a family or want to know what risks certain conditions present to you, we can give you answers to life's important questions. 


To find out more about what we work, please visit us today at www.genetics.ie, where you'll discover everything, you need to know. Alternatively, if you'd like to talk to our expert team about your personal testing requirements, simply call 087 4037149, and we'll be happy to help.

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When Genetic Testing Might Help to Diagnose a Child's Condition

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The Benefits of Genetic Testing for Neuromuscular Diseases