Generation II of V · Kinds of test
Types of genetic test
Official Australian pages describe genetic tests by what they are for: looking for the genetic cause of a condition, checking whether someone carries a gene that could affect their children, testing newborn babies, and looking for changes that raise the chance of a disease. The table sets out each kind in the words of the page that describes it, and the sections after it go into detail.
General information, not medical advice. Call Triple Zero (000) in an emergency, or go to the emergency department of your nearest hospital. The official consumer page to check is healthdirect’s page on genetic testing.
Kinds of test
Five kinds of test
| Kind | What it is for | Described by |
|---|---|---|
| Diagnostic test | A laboratory checks your genes for mutations, which can help diagnose some genetic conditions. | healthdirect |
| Carrier screening | Finds out whether you carry a gene that may cause a genetic problem if it passes to your children. | healthdirect |
| Reproductive carrier screening | Done before or early in pregnancy, to show a couple how likely they are to have a child with a serious genetic condition. | NSW Health |
| Newborn testing | Having a newborn baby is on healthdirect’s list of reasons to consider testing, and it notes that a simple blood test can detect some rare genetic conditions. | healthdirect |
| Future risk | Looks for changes in your DNA that can raise the chance of developing certain diseases. | healthdirect |
Diagnostic tests
Tests that look for a cause
A diagnostic test looks for mutations in your genes, and healthdirect says this can help diagnose some genetic conditions. Two official pages give examples of where such a test fits.
Mitochondrial disease
The Health Minister’s November 2023 release on new genetic testing rebates says Medicare rebates would become available for genetic testing to diagnose mitochondrial disease. It describes the disease as hard to diagnose, often needing a muscle biopsy.
A karyotype
On its page about testosterone testing, healthdirect says a doctor may refer someone for a karyotype, a genetic test, to look for genetic conditions such as Klinefelter’s syndrome.
Carrier tests
Tests for carriers
The Health Minister’s release explains that reproductive carrier testing shows whether someone is a genetic carrier for a particular condition, even though they have no symptoms.
NSW Health describes reproductive genetic carrier screening as a test done before pregnancy or in early pregnancy, used to show a couple how likely they are to have a child with a serious genetic condition. It also draws a clear line between this and other screening in pregnancy:
“Reproductive genetic carrier screening is different to screening tests undertaken during pregnancy which assess the chances of a baby having Down syndrome or another chromosomal condition.”
NSW Health, Reproductive genetic carrier screening
Federally, the Health Minister’s release describes new Medicare rebates for couples to learn their combined chance of a child born with one of three conditions: cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS). Medicare and genetic tests covers who can have those tests and what the rebate is.
Newborn testing
Tests for newborn babies
healthdirect’s list of reasons someone might consider genetic testing includes having a newborn baby, and it notes that a simple blood test can detect some rare genetic conditions. For anything more about newborn testing, healthdirect’s page on genetic testing is the place to start.
Future risk
Tests that estimate a future chance
Some tests do not diagnose a condition; they look at the chance of one. healthdirect describes genetic testing as checking for DNA changes that can cause health problems or raise the chance of developing certain diseases.
healthdirect makes a related point about genetic testing in general. A positive result for a mutation does not always mean the linked disease will follow, although some genes always cause it; healthdirect gives the neurofibromatosis type 1 gene as one example. Results and your family looks at what that means for relatives.
Other DNA tests
Medical tests and other DNA tests
For a medical test, healthdirect says it is best to see your doctor or a genetic counsellor first. Some DNA tests are sold for other reasons. The NSW Centre for Genetics Education says ancestry tests, which look for clues about where your ancestors came from and how families are related, are commonly sold online by private companies, and that paternity tests can be bought commercially, by mail order and over the internet. They sit outside the medical tests this site describes.
Microbial genomics
Genomics and germs
Genomic testing is not only about people. The federal health department says microbial genomics gives information about the genomic sequence of pathogens, which is used to manage outbreaks and threats from communicable diseases. It also notes that researchers used genomics techniques to sequence the genome of the SARS-CoV-2 virus, which meant COVID-19 vaccines could be developed quickly.