Diagnostic Genetic Testing

What is a diagnostic genetic test?

This refers to a genetic test used to help confirm or rule out a suspected genetic condition in a person who is showing symptoms.

Someone may be offered diagnostic genetic testing if they were exhibiting symptoms that suggested a specific genetic condition. This type of testing can be carried out on individuals of any age to help establish a diagnosis.

How can diagnostic testing be arranged?

If a doctor suspects that a person’s health problems are as a result of a genetic disorder, they can arrange for genetic testing to be performed to clarify the diagnosis. Diagnostic testing may also be arranged by a specialist e.g. a paediatrician who would send a blood sample to a genetics laboratory or by a clinical geneticist (a doctor specialising in diagnosing genetic conditions) who would organise the appropriate genetic testing directly.

Things to consider prior to having diagnostic testing

Diagnostic testing has the benefit of confirming a diagnosis and so can help an individual to access the appropriate medical management for their condition. It is important to remember, however, that establishing a diagnosis in an individual may have implications for other family members as well.

When considering having diagnostic genetic testing, it is important to meet with a genetic counsellor who will help explain the varied implications for you and other family members.  For more information about the purpose, benefits and how to contact a genetic counsellor, please refer to the genetic counselling section.