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Genetic Testing

Genetic testing, sometimes called molecular testing, identifies changes in genes or chromosomes.  It can screen, casting a wide net to detect as yet unidentified genetic mutations (whole genome testing), or be used specifically to target a particular gene and a diagnose a health disorder.  Genetics refers to the study of individual genes, whilst genomics describes the study of all a person's genes (the genome).


Genetic and genomic testing are transforming healthcare and new tests are being developed all the time as research discovers more genetic alterations and learns how they link to particular health conditions. Expect to see more genetic testing in the years to come.

When are you likely to encounter genetic testing?

  • If you are planning a pregnancy, a reproductive carrier screening (RCS) test can tell if you and your partner carry genetic alterations that could put a baby at risk of being born with any one of hundreds of rare sometimes severe childhood conditions.
  • During pregnancy, a NIPT – non-invasive prenatal test – can check to make sure the baby you are carrying isn’t at high risk of chromosomal conditions such as Down syndrome. This test analyses small fragments of the baby’s DNA circulating in the mother’s blood. The same technique is now being developed to detect DNA that is being released from cancer cells as an early diagnosis of cancer.
  • If you have cancer, a biopsy of a tumour can be tested for genetic alterations that show what type and sub type your cancer is and what treatments will work best for that particular type. This is known as personalised medicine.
  • Genetic testing can show if you carry genes for specific inherited conditions such as high cholesterol or hemochromatosis.
  • Genetic testing can even show how well you will respond to a particular medication and the best dosage to treat your condition effectively without being too much to cause you harm (pharmacogenomics).
  • Genetic testing is used to detect viruses such as Covid. It can also detect bacteria and in some cases identify if the bacteria carry mutations that will prevent an antibiotic killing them.


You’ll find many genetic tests in the Pathology Tests Explained library.

Genetic testCondition(s)
ALK MutationNon-small cell lung cancer
Apo E genotyping

Lipoprotein and cholesterol disorders

Late onset Alzheimer's

B-cell immunoglobulin gene rearrangementsB-cell lymphoma

Chronic myelogenous leukaemia (CML)

Acute lymphoblastic leukaemia (ALL)

CF gene mutation testingCystic fibrosis
Chromosome studiesChromosome abnormalities associated with genetic disorders and certain haematologic and lymphoid disorders
EGFR mutation testingNon-small cell cancer
Factor V Leiden & PT 20210Deep venous thrombosis (DVT) and/or venous thromboembolism (VTE)
Familial hypercholesterolaemia (FH) genetic testingInherited high levels of LDL cholesterol
FMR1 mutationsFragile X Syndrome
Genome-wide microarray testingDevelopmental problems in children
HER2/neuBreast cancer
Hereditable pathogenetic variants in colorectal and endometrial cancer

Lynch syndrome

Colorectal cancer, endometrial cancer, or other cancers associated with possibly inherited genetic changes

HFE mutationsHaemochromatosis
HIV genotypic resistanceAntiviral therapy for HIV
HLA testingOrgan or bone marrow transplants
JAK2 mutationBone marrow disorder, including polycythaemia vera, essential thrombocythaemia, or primary myelofibrosis
Microsatellite instabilityColorectal cancer
MPL mutationBone marrow disorders with overproduction of one or more types of blood cells - myeloproliferative neoplasms (MPNs)
MTHFR mutation

Not routinely ordered - a follow up of high levels of homocysteine in the blood.

A family history of premature cardiovascular disease or blood clots.

NIPTDown syndrome and other chromosomal disorders
Reproductive Carrier Screening 
Pharmacogenomic testsMedications and dosage
PSEN1Early onset Alzheimer's or dementia
Somatic tumour gene testingCancer
T-cell receptor gene rearrangementsT-cell lymphoma
TPMTimmune suppressant medications
VHL Gene MutationVon Hippel-Lindau syndrome
Whole genome or whole exome testing for childhood syndromesDevelopmental problems in children
Online DNA tests 

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