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?
You’ll find many genetic tests in the Pathology Tests Explained library.
|ALK Mutation||Non-small cell lung cancer|
|Apo E genotyping|
Lipoprotein and cholesterol disorders
Late onset Alzheimer's
|B-cell immunoglobulin gene rearrangements||B-cell lymphoma|
Chronic myelogenous leukaemia (CML)
Acute lymphoblastic leukaemia (ALL)
|CF gene mutation testing||Cystic fibrosis|
|Chromosome studies||Chromosome abnormalities associated with genetic disorders and certain haematologic and lymphoid disorders|
|EGFR mutation testing||Non-small cell cancer|
|Factor V Leiden & PT 20210||Deep venous thrombosis (DVT) and/or venous thromboembolism (VTE)|
|Familial hypercholesterolaemia (FH) genetic testing||Inherited high levels of LDL cholesterol|
|FMR1 mutations||Fragile X Syndrome|
|Genome-wide microarray testing||Developmental problems in children|
|Hereditable pathogenetic variants in colorectal and endometrial cancer|
Colorectal cancer, endometrial cancer, or other cancers associated with possibly inherited genetic changes
|HIV genotypic resistance||Antiviral therapy for HIV|
|HLA testing||Organ or bone marrow transplants|
|JAK2 mutation||Bone marrow disorder, including polycythaemia vera, essential thrombocythaemia, or primary myelofibrosis|
|Microsatellite instability||Colorectal cancer|
|MPL mutation||Bone marrow disorders with overproduction of one or more types of blood cells - myeloproliferative neoplasms (MPNs)|
Not routinely ordered - a follow up of high levels of homocysteine in the blood.
A family history of premature cardiovascular disease or blood clots.
|NIPT||Down syndrome and other chromosomal disorders|
|Reproductive Carrier Screening|
|Pharmacogenomic tests||Medications and dosage|
|PSEN1||Early onset Alzheimer's or dementia|
|Somatic tumour gene testing||Cancer|
|T-cell receptor gene rearrangements||T-cell lymphoma|
|TPMT||immune suppressant medications|
|VHL Gene Mutation||Von Hippel-Lindau syndrome|
|Whole genome or whole exome testing for childhood syndromes||Developmental problems in children|
|Online DNA tests|
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