Test Directory

EGFR mutation analysis (FFPE)

Containers - Adult

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FFPE block / H&E slide / Pathology report

Laboratory Site

RIE
51 Little France Crescent
Old Dalkeith Road
Edinburgh
EH16 4SA
Telephone: 0131 536 1000

Transport arrangements

Referral specimens should be sent directly to Molecular Pathology at the above address (see transport recommendations). For patients with pathology specimens held within NHS Lothian there is no need to arrange transport of specimens.

How to request

​​EGFR mutation analysis can be requested individually or as part of the lung cancer panel. EGFR mutation analysis may, in some circumstances, also be performed on cell-free tumour DNA (cfDNA) isolated from blood.

Testing for NHS Lothian patients can be requested by email to molecular.pathology@nhslothian.scot.nhs.uk. Referral requests must be accompanied by a completed request form.
 
 
Please also refer to our detailed requesting instructions.

Availability

​​Monday - Friday. 09:00 – 17:00

Anticipated turnaround

​​An integrated Molecular Pathology report should be available within 10 working days. See results.

Static information/disclaimer

NGS and analysis by COBAS EGFR test are both accredited to ISO 15189.  

Please note, alternative methodologies may be used. Full details will be included in all reports.

General additional information

​Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) are currently used as first line treatment for patients with advanced metastatic non-small cell lung cancer (NSCLC). Somatic mutations in exons 18 to 21 of the EGFR gene are used to predict response to EGFR TKIs.

Molecular Pathology use an NGS panel or the COBAS® EGFR mutation kit (Roche Diagnostics) for the detection of EGFR variants.  Further details of the NGS panel and regions analysed can be found here.  The COBAS EGFR mutation kit  can detect 41 mutations in exons 18-21 of the EGFR gene: 30 deletions and complex mutations in exon 19; c.2369C>T p.(Thr790Met); c.2303G>T p.(Ser768Ile); c.2573T>G or c.2573_2574delTGinsGT p.(Leu858Arg); c.2155G>A p.(Gly719Ser); c.2156G>C p.(Gly719Ala); c.2155G>T p.(Gly719Cys); and 4 insertions in exon 20. The assay detects 86.7% of known mutations in exons 18 to 21 as listed in the Catalogue of Somatic Mutations in Cancer.

EGFR mutation analysis is carried out as part of the lung cancer testing panel, which also includes KRAS mutation analysis, PD-L1 expression and detection of ALK and ROS1 gene rearrangements.

For clinical advice on appropriate investigations, please contact our Molecular Pathology team.