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.
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.
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.