Genetic Testing

During your consultation, we will assess and discuss the tests relevant to your health issues. Your doctor will provide genetic counselling before testing and after results are returned. More information on informed consent is available on our page.

Genetic tests include :

• Karyotype: Detects conditions caused by changes in the number or structure of the chromosomes; for example, Down syndrome (trisomy 21), Turner syndrome (45X0), and Klinefelter syndrome (47XXY).
• Chromosome microarray: Detects conditions caused by small changes in chromosomes; for example, 15q1.2 microdeletion syndrome and 22q11.2 deletion syndrome (known as Di George syndrome).
• MLPA: Detects conditions caused by missing or duplicated genes; for example Charcot-Marie-Tooth disease and alpha thalassemia.
• Triplet repeat testing: Detects conditions caused by extra copies of certain sections of the genetic (DNA) sequence within known genes; for example Fragile X syndrome, Huntington’s disease and myotonic dystrophy.
• Gene panel: Detects changes in genes that are known to cause specific genetic conditions; for example, cardiomyopathy, arrhythmia, familial hypercholesterolaemia, or inherited cancer (breast, ovarian, bowel, or kidney cancer).
• Whole exome sequencing (WES) or whole genome sequencing (WGS): Gives very detailed information about a person’s genetic code to detect health conditions that have many different symptoms and possible causes, for example, childhood developmental delay and intellectual disability.

Cost of genetic testing

Some genetic tests are covered by Medicare rebates for eligible patients. These include tests to detect the genetic changes that cause:

• Cardiomyopathy (Medicare Benefits Schedule [MBS] item number 73392)
• Arrhythmia (MBS item number 73416)
• Familial hypercholesterolaemia (MBS item number 73352)
• Childhood intellectual disability (MBS item numbers 73358-73363)
• Breast, ovarian, fallopian tube or peritoneal cancer (MBS item number 73296)
• Neuromuscular conditions (Medicare item number 73422).

For other health conditions, most genetic tests incur costs.

This is because the tests are sent to specialist laboratories, where highly trained scientists conduct and interpret them. The cost of genetic testing varies, starting from a few hundred dollars. Testing has become increasingly cost-effective for many conditions.

Our team will discuss the relevant costs with you at your appointment.