Who can this help?
What does it do?
Why should I choose it?
Which genes are covered?
MGP-4 DNA (SNVs & Small Indels): AKT1, ALK, BRAF, CDKN2A, CTNNB1, CXCR4, EGFR, ERBB2, ERS1, FBXW7, FGFR1, FGFR2, FGFR3, GNA11, GNAQ, HRAS, IDH1, IDH2, KIT, KRAS, MAP2K1, MET, MYD88, NRAS, PDGFRA, PIK3CA, POLE, PTEN, RET, SMAD4, STK11, TP53
MGP-4 DNA (Copy Number Gains – ‘CNGs’): EGFR, ERBB2, KIT, KRAS, MET, PIK3CA
MGP-4 RNA (Gene Fusions): ABL1, AKT3, ALK*, AXL, BRAF, EGFR, ERBB2, ERG, ETV1, ETV4, ETV5, FGFR1, FGFR2, FGFR3, MET, NTRK1*, NTRK2, NTRK3*, PDGFRA, PPARG, RAF1, RET*, ROS1*
*Validated for clinical use, all other gene fusions are for research use only (RUO). Also note that for reasons of clarity, fusion partners are not shown above, please click here to see the full list.
Rapid-turnaround single gene tests
Who can they help?
What do they do?
Why should I choose one?
Which genes are covered?
BRAF: Common variants at codon 600
KRAS: Common variants at codons 12, 13, 59, 61, 117, 146
NRAS: Common variants at codons 12, 13, 59, 61, 117
EGFR: Common variants at codons 719, 768, 790, 858, 861 & Common exon 19 deletions/exon 20 insertions
Other tests currently available for clinical use:
1) MSI & MLH-1 promoter methylation analysis
Both these tests, which were designed for use in accordance with the latest NICE and ACGS guidelines relating to Lynch Syndrome pre-screening, are available upon demand. The MSI assay is also suitable for use (in accordance with FDA guidance) in identifying patients with advanced solid tumours who may benefit from immune Check Point Inhibitor (CPI) therapy.
2) Endopredict test (Myriad Genetics)
This test, produced by Myriad Genetics, but performed in-house at Sarah Cannon, is designed to assess the 10 year risk of distant breast cancer recurrence, and thus permit an evaluation of the relative risks/benefits of utilising chemotherapy after surgery to remove the primary tumour.
What’s in development?
1) Rapid turn round assay for actionable gene fusions
Directly actionable gene fusions, such as ALK and ROS1 are typically assessed using alternative techniques like immunohistochemistry (IHC) and Fluorescence In Situ Hybridization (FISH). These can be quicker and cheaper than NGS (which for fusions at least, many more suited to clinical trial screening), however we are hoping to launch some rapid Q-PCR based single gene fusion options which may be even faster/cheaper than IHC/FISH.
2) Somatic HRD panel for PARPi use
The clinical and trial use of PARP inhibitors is increasing. With indications in more tumour types that are based on both somatic as well as germline variants in genes, other than just BRCA1/2, that are involved in Homologous Repair Deficiency. We are working on a multi-gene panel to try to address these needs in a sensitive, robust and cost effect way.
3) Improved partner agnostic gene fusion detection
More recently targetable fusions such as the NTRKs and specifically the FGFRs have now been shown to have a much more diverse range of fusions partners that the more familiar ALK, ROS1 and RET. We are working to ensure that we can reliably detect as many of these (ideally all, via a partner agnostic solution) as possible.