Not all genetic tests are the same. Some look at the ‘big picture’ of your DNA, while others look at very specific details.
Our role is to determine which type of testing is right for you. Based on your history, examination, family history and personal factors, clinical geneticist recommend whether we need a detailed map of your chromosomes or a read of your entire genetic code. This ensures that we are looking for an answer to help you and your doctors manage your health care.
Genetic counselling, costs and timeframes on testing will be provided. All genetic tests required informed and written consent.
First Light Genetics is not a laboratory. Diagnostic genetic and genomic tests are ordered by your doctor and sent to expert specialist laboratories, where highly trained scientists and genetic pathologists conduct and interpret them.
These laboratories may be recommended due to special interests or access to specific technologies, e.g., neurology.
The cost of genetic testing varies, ranging from a few hundred dollars to a few thousand dollars. Testing has become increasingly cost-effective for many conditions.
Some genetic tests are covered by Medicare rebates for eligible patients according to strict criteria.
Medicare-funded test options are available for :
Many conditions, like connective tissue disorders or isolated autism, do not have a Medicare-funded test.
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).
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).
Tests that analyse the DNA from cancer cells to identify new changes that drive the growth of a cancer and explain the cause. This can help uncover an underlying predisposition to cancer.
MLPA
Detects conditions caused by missing or duplicated genes; for example Charcot-Marie-Tooth disease and alpha thalassemia.
Detects conditions caused by small changes in chromosomes; for example, 15q1.2 microdeletion syndrome and 22q11.2 deletion syndrome (known as Di George syndrome).
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.
Tests that analyse many common genetic variants to calculate a person’s inherited risk of developing common diseases such as cancer, cardiovascular disease, and diabetes.
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.
Gives very detailed information about a person’s genetic code to detect health conditions that have many different symptoms and possible causes
Test that looks at how genetic variations affect an individual’s response to specific medications.
Testing that examines DNA changes, called polymorphisms, to assess health risk. As a diagnostic medical service, we do not order DTC tests.
