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Somatic Mutation Testing
New gene panels now available
Sonic Genetics has introduced next generation sequencing (NGS) panels to test for Medicare-rebatable somatic
mutations of potential therapeutic relevance. This extension to our test methods allows mutational ‘hotspots’ in a
number of genes to be tested simultaneously at no increase in price when compared to testing one gene at a time.
These panels have been fully accredited for use in clinical testing.
We have linked these NGS panels to other immunohistochemical and FISH studies to simplify requests and reporting
for clinicians.
There are currently three combinations of NGS panels and other tests, grouped by tumour type. For some rebated tests, the request
can be made by either the clinician or pathologist, but for other rebated tests, the request must be made by the clinician; these
distinctions are highlighted on the request form. [The corresponding MBS item numbers are shown below].
Non small-cell lung cancer
Melanoma panel
In a patient with non-squamous NSCLC, the clinician requests
the NSCLC NGS panel. This includes EGFR (the target gene for
the rebate [73337])as well as KRAS, BRAF and ERBB2.
In a patient with metastatic melanoma, the clinician requests the
melanoma NGS panel. This includes BRAF (the target gene for
the rebate [73336]) as well as KIT and NRAS.
If no EGFR mutation is detected, the patient’s tumour will
be screened by ALK immunohistochemistry; if not already
requested, this will be actioned by our pathologist [72846].
If Medicare criteria are not met i.e. the patient does not have
metastatic disease, the private fee is $230.95.
If the screen for ALK rearrangements is positive or equivocal
and the patient has locally advanced or metastatic disease, the
result will be confirmed by ALK FISH (which is the current gold
standard). This test can only be rebated if the sequence of EGFR
and ALK immunohistochemistry is followed and the patient has
advanced disease [73341].
ROS1 FISH testing is also available.
If Medicare criteria are not met, the private fees are $397.55
(NSCLC NGS panel) and $355 (ALK FISH). There is no Medicare
rebate for ROS1 FISH; the test costs $355.
Colorectal carcinoma panel
In a patient with metastatic colorectal carcinoma, the clinician
requests the CRC NGS panel. This includes KRAS and NRAS (the
target genes for the rebate [73338]) as well as BRAF and PIK3CA.
If Medicare criteria are not met i.e. the patient does not have
metastatic disease, the private fee is $362.59.
For further information, including scientific and peer-reviewed
publications, please refer to our website, www.sonicgenetics.com.au
or call us on 1800 010 447
The new somatic mutation panels are available through
your local Sonic laboratory, and will be performed
using next generation sequencing. Actionable variants
detected in the additional genes in each panel will be
reported. Note that DNA quality may be insufficient in
a small proportion of samples to allow next generation
sequencing. Such samples will be tested for mutations in
the rebated genes, using ‘single gene’ targeted methods.
Updated request forms for somatic mutation panel
testing are available at www.sonicgenetics.com.au
Somatic Mutation Testing is overseen by
one of our genetic pathologists, Dr James
Harraway. For any questions regarding
these panels or somatic mutation testing in
general, please contact Dr Harraway.
Dr James Harraway MB ChB, FRCPA, DPhil
P: 07 3377 8396
E: [email protected]
14 Giffnock Avenue, Macquarie Park, NSW 2113, Australia
T: 1800 010 447 | E: [email protected]
www.sonicgenetics.com.au