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’s Involved In Carrier Testing?
A carrier test typically involves testing tissue from the inside of the cheek, saliva or blood, with either a positive (the gene mutation is present) or negative (the gene mutation isn’t present) result at the end. Usually, the partner who has the higher chance of being a carrier has their test first – a typical example would be the sibling of a person affected with a disorder such as Cystic Fibrosis.
In the event of the first partner getting a negative result, then no further testing is required. However, if a positive result is received, the other partner is then tested. Once you’ve been tested for a particular disorder, you will not then need to be screened again for the same disorder.
When Should Carrier Testing Be Conducted?
When you get screened is your prerogative, as some choose to have it before having children, while others don’t. However, while it is possible to have it done during pregnancy, going through it before you’re pregnant gives you more time and potentially more options for mitigating risk.
The truth is that there is no right or wrong choice, as everyone has their own personal circumstances and motives. If you’re unsure, it is worth having a friendly chat with your chosen geneticist who can go further into what needs to be considered.
What Types of Diseases Does Carrier Testing Cover?
When a geneticist conducts carrier testing, it’s usually to check for a specific disease for which a person is known to be at risk by virtue of family history. Such situations are commonly encountered for families with a risk of :
Fragile X syndrome
Sickle cell disease
Tay-Sachs disease
Cystic Fibrosis
Sometimes disorders can occur more frequently in particular ethnic groups and carrier testing is then focused on the risks which are known in that group. However, anyone from any background can experience these genetic problems. They are simply more common among some populations.
After receiving your results, the Geneticist will then discuss your diagnosis and help you understand the implications for reproduction and the options open to you.
Providing You With the Expert Diagnosis You Require
At Genetics.ie we strive to individualise the care we provide to account for your demeanour and attitudes towards your genetic issue.
To learn more about this or the wide range of genetic testing services we offer, visit us today at wwww.genetics.ie. Alternatively, to schedule an appointment with one of our experts, simply call us on 01 206 4329 or fill out our contact form and we’ll get back to you as quickly as we can.