Genetic Testing

At First Light Genetics, we offer several different types of genetic testing. For all testing, we provide genetic counselling before the testing is done and after the results are returned.

Available 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

There are costs associated with most genetic tests. This is because the tests are sent away to specialist laboratories, where highly trained scientists carry out and then interpret the tests.

The cost of genetic testing usually starts at several hundred dollars. Our team will discuss the current costs with you at your appointment.

The cost of some genetic tests may be completely or partially covered by Medicare. 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).