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Solid cancer service updates - Cambridge Lab

Solid cancer referrals to our Cambridge Laboratory should be made using our updated order form, and clinical reports may now include additional genetic findings pertinent for clinical trial recruitment.

Updated ordering

The new order form for solid cancer tests is now available, this replaces our existing form and should be used when placing non-whole genome sequencing orders via our Cambridge Laboratory. Please make use of this new form for all future referrals.

Note: Orders within Cambridge University Hospitals are unchanged and should continue to be placed via EPIC.

The updated form can be completed digitally and aims to simplify the ordering process, ensuring that we can process tests and return results efficiently.

Details of all essential requirements for ordering are included on the order form page and guidance on specimen requirements is also available.

Notable updates include:

  • Space to provide national genomic test directory codes and supportive clinical data, in place of clinical indications.
  • Differentiation between referrals for diagnosis and more targeted referrals to inform use of therapeutics.
  • Inclusion of homologous recombination deficiency (HRD) testing. Please use this form for all HRD referrals.
  • A reduced threshold for tumour purity for next generation sequencing tests (now 20%), meaning fewer slides require marking before sending.
  • Specified tumour purity thresholds for MGMT methylation, MLH1 methylation and HRD testing.

Ensuring all order form sections are completed clearly and in full prevents delays and improves the relevance of results.

Please always ensure that you are ordering tests that your patient is eligible for. East Genomics is only commissioned to perform testing on eligible patients as laid out in the national genomic test directory (opens in a new tab). Other requests will not be fulfilled. Find out about how to propose additions to the national genomic test directory (opens in a new tab).

Updated reporting

You may also now find additional genetic variants included in some solid cancer reports.

NHS England defines a number of genes that are potentially relevant for clinical trial access (opens in a new tab). These are divided into two ‘steps’ detailed in the table below.

  • Step 1 variants are indicated in the National Genomic Test Directory and are already included in reports from all our labs at East Genomics.
  • From October 2025, where possible, our Cambridge Lab will also begin reporting on Step 2 DNA variants.
    • Additionally, all pertinent gene fusions are reported when a specific RNA test is requested.

Note that reporting on CNV loss is not currently available for clinical trial targets

Clinical trial access genes by step. (*Germline origin will be considered for deleterious variants in these genes)
“Step” Gene SNV (small nucleotide variants) CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 1 Gene ALK SNV (small nucleotide variants) CNV (copy number variant)
Gain
Gene
Fusion
x
SV (structural variant)
“Step” 1 Gene BRAF SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
x
SV (structural variant)
“Step” 1 Gene ERBB2 SNV (small nucleotide variants) x CNV (copy number variant)
Gain
x
Gene
Fusion
SV (structural variant)
“Step” 1 Gene MET SNV (small nucleotide variants) CNV (copy number variant)
Gain
x
Gene
Fusion
x
SV (structural variant) Ex14
Skipping
“Step” 1 Gene ROS1 SNV (small nucleotide variants) CNV (copy number variant)
Gain
Gene
Fusion
x
SV (structural variant)
“Step” Gene SNV (small nucleotide variants) CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene BRCA1* SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene BRCA2* SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene CDK12 SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene EGFR SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene FGFR1 SNV (small nucleotide variants) x CNV (copy number variant)
Gain
x
Gene
Fusion
SV (structural variant)
“Step” 2 Gene FGFR2 SNV (small nucleotide variants) x CNV (copy number variant)
Gain
x
Gene
Fusion
SV (structural variant)
“Step” 2 Gene FGFR3 SNV (small nucleotide variants) x CNV (copy number variant)
Gain
x
Gene
Fusion
SV (structural variant)
“Step” 2 Gene IDH1 SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene IDH2 SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene KRAS SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene MLH1* SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene MSH2* SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene MSH6* SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene NF1 SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene NF2 SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene NRAS SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene PALB2* SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene PIK3CA SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene RAD51 SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)
“Step” 2 Gene RET SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
x
SV (structural variant)
“Step” 2 Gene TP53 SNV (small nucleotide variants) x CNV (copy number variant)
Gain
Gene
Fusion
SV (structural variant)