Somatic Cancer Next Generation Sequencing (NGS) Mutation Panel

Introduction

Oncogene driver mutations have been identified across a wide range of tumours and therapies are increasingly being adopted into standard clinical practice whose clinical effectiveness is dependent on the presence or absence of oncogene mutations. Panel testing for a wide range of oncogene mutations uses limited pathology material effectively, reduces overall test turn-round and is more cost effective than serial testing. Panel testing can also be used to pre-screen patients for clinical trial eligibility. This test identifies oncogene driver mutations (single nucleotide changes and insertion/deletions <40bp) across 24 clinically relevant oncogenes.

Referral information

We require a minimum 5x5uM thick unstained sections from a pathology specimen which must have been reviewed by a histopathologist and be accompanied by a completed test request form, clearly stating the proportion of neoplastic cells in the block. For optimum detection of somatic mutations >20% neoplastic cell content is required.

Referrals will be accepted from oncologists, pathologists and MDTs managing  cancer patients with a range of solid tumours including cancers of unknown primary.

Price & reporting times

Test Price GBP (£) Target Reporting Time (working Days)
Stomatic Cancer NGS Mutation Panel Contact Lab 10

Test validation & quality assurance - information for users

The Somatic Cancer NGS Mutation Panel has been validated in-house using DNA extracted from over 100 FFPE samples from a wide range of tumour types. Analytical test sensitivity is >99%, analytical test specificity is >99%. Data is analysed using a custom bioinformatics pipeline developed in-house which detects somatic mutations present at a level of >4% mutant allele frequency in the sample submitted for testing. Poor preservation of DNA or low DNA yield may lead to analysis failure which occurs in <10% of samples analysed.

The laboratory is UKAS assessed against ISO 15189 standards.

Referral guidelines

Please see our referral guidelines for more information.

Gene(s) - AKT1, ALK, AR, BRAF, CTNNB1, DDR2, EGFR, ERBB2, FGFR3, GNA11, GNAQ, IDH1, IDH2, KIT, KRAS, MAP2K1, MET, NRAS, PDGFRA, PIK3CA, PTEN, RET, STK11, TP53

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