Molecular testing of solid tumours has become increasingly important as actionable, therapeutic genetic variants are identified for a greater range of malignancies

The use of genetic testing to identify specific mutations within solid tumours is now commonplace in many oncological disciplines, with lung, melanoma, and colorectal cancer leading the way. Therapeutic agents (such as tyrosine kinase inhibitors) have been developed which act specifically in the presence of targeted actionable genetic variants. Genetic test results may enable patients to access appropriate treatments under the pharmaceutical benefit scheme.


This approach, known as precision medicine enables uniquely tailoring medications to optimise patient outcomes.

Tumour Molecular Testing

Specific activating mutations in KRAS and NRAS genes indicate there is likely to be reduced response to EGFR inhibitor therapy. Lack of activating mutations defines eligibility for accessing anti-EGFR therapies under the Pharmaceutical Benefits Scheme (PBS).

Test Name Colorectal cancer gene panel
Clinical IndicationTesting of metastatic colorectal cancer tumour tissue to determine the eligibility for access to cetuximab or panitumumab under the Pharmaceutical Benefits Scheme (PBS).
Gene(s)KRAS, NRAS, BRAF, PIK3CA, EGFR
MethodMassARRAY
Turn around time1 week from receipt of sample
Medicare Eligibility73338
Criteria apply – dependant on tumour type and stage
Sample TypeFFPE Tumour Tissue
Special Instructions6 x 5 micron slides plus 1 x H&E stained slide required
Some mutations that occur in BRAF during melanoma progression are actionable targets for therapeutic agents. Testing for the BRAF V600 somatic mutations (V600E and V600K) in metastatic melanoma tumour tissue may assist in determining which patients will likely benefit from anti-BRAF therapeutics and, if a V600 mutation is present, whether they will be eligible for accessing the anti-BRAF agent dabrafenib under the Pharmaceutical Benefits Scheme (PBS).
Test Name Melanoma Gene Panel
Clinical Indication Testing of malignant melanoma tissue to determine eligibility for access to dabrafenib or vemurafenib under the PBS
Gene(s) BRAF, NRAS, KIT
Method MassARRAY
Turn around time 1 week from receipt of slides
Medicare Eligibility 73336 – Criteria apply
Sample Type FFPE Tumour Tissue
Special Instructions 6 x 5 micron slides plus 1 x H&E stained slide required
Test Name BRAF V600 Mutations
Clinical Indication Testing of malignant melanoma tissue to determine eligibility for access to dabrafenib or vemurafenib under the PBS
Gene(s) BRAF
Method PCR Genotyping
Turn around time 1 week from receipt of slides
Medicare Eligibility 73336 – Criteria apply
Sample Type FFPE Tumour Tissue
Special Instructions 6 x 5 micron slides plus 1 x H&E stained slide required

Mutations in the epidermal growth factor receptor (EGFR) gene can influence therapy choice in patients with non-small cell lung cancer (NSCLC) as some mutations in the EGFR gene confer sensitivity to tyrosine kinase inhibitors (TKIs), whereas others may confer resistance. The mutation status of EGFR can be a useful marker by which patients are selected for EGFR-targeted therapy. Testing for EGFR mutations in exons 18, 19, 20 and 21 in NCSLC tumour tissue may assist in determining which patients will benefit from TKI inhibitor treatments and determine their eligibility to access treatment under the PBS.

Test NameLung NSCLC Gene Panel
Clinical IndicationTesting of non-small lung cancer tissue to determine eligibility for access to erlotinib, gefitinib, afatinib or osimertinib under the PBS.
Gene(s)EGFR, BRAF, ERBB2, KRAS
MethodMassARRAY
Turn around time1 week from receipt of slides
Medicare Eligibility73337 or 73351– criteria apply
Sample TypeFFPE Tumour Tissue
Special Instructions6 x 5 micron slides plus 1 x H&E stained slide required

A broad range of FISH is available for the detection of non-random rearrangements and whole or partial chromosome aneuploidy that are associated with neoplasms including non-small cell lung cancer, sarcoma and lymphoma. FISH is a targeted investigation and has the benefit of screening large numbers of cells to detect clonal abnormalities.

Test NameFFPE Solid Tumour FISH
Clinical IndicationFor diagnosis, classification and prognosis in solid tumour oncology.
Gene(s)ALK, ROS1, IGH, MYC, BCL2, BCL6, MDM2, others as listed below
MethodFISH
Turn around time7 – 14 days
Medicare EligibilityLung (NSCLC): 73337; Colorectal Cancer (CRC): 73338; Metastatic Melanoma: 73336. Criteria applies to all.
Sample TypeFFPE Tumour Tissue
Special Instructions5 x 5 micron slides plus H&E stained slide required
Syndrome/IndicationGene LocusChromosome Location
Non-small cell lung cancerALK2p23
ROS16q22.1
GliomaGLI12q13
LiposarcomaCHOP12q13
FUS16p11
Alveolar rhabdomyosarcomaFKHR13q14
FOXO113q14
Synovial sarcomaSYT18q11.2
Ewings sarcomaEWSR122q12
NeoplasmsMDM2 amplification12q14.3
Follicular lymphomaIGH/BCL2t(14;18)(q32;21)
Mantle cell lymphomaIGH/CCND1-XTt(11;14)(q13;q32)
Non-Hodgkin lymphomasIGH/MALT1t(14;18)(q32;q21)
Burkitt’s lymphomaIGH/MYCt(8;14)(q23;q32)

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