East Genomics

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Inherited cancer service

Dear Colleagues

I would like to inform you of a change in service delivery for Inherited Cancer genomic tests in the East GLH region. The associated Rare Disease Test Directory Clinical Indications are listed in the table below.

From the 1st of January 2023, all test orders and samples received for these Clinical Indications will be processed in the Cambridge Laboratory. Analysis and reporting will be performed by both the Cambridge and Nottingham Clinical Scientist Teams using standardised processes and reporting templates.

This change in service will provide the additional gene content specified for the core Inherited Cancer Clinical Indications in the Rare Disease Test Directory and provides copy number screening for all genes tested.

You do not need to change your current practice or sample routing. Continue to send test orders and samples to your local genomics laboratory in Cambridge, Leicester or Nottingham. It is important that you indicate patient eligibility for the Clinical Indication requested on the test order form as testing will only be activated if eligibility criteria for the patient are met.

We aim to meet the prescribed national turnaround times for these tests (in table below). If the results of testing will affect imminent treatment decisions and/or surgical management of a patient we will prioritise testing. For these patients mark as urgent on the test order form and state the reason for urgency to enable the team to prioritise testing appropriately.

Code Clinical Indication Genes Turn Around Time
Code R207 Clinical Indication Inherited ovarian cancer (without breast cancer) Genes BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, PALB2, RAD51C, RAD51D Turn Around Time 42 days
Code R208 Clinical Indication Inherited breast cancer and ovarian cancer Genes ATM, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D Turn Around Time 42 days
Code R210 Clinical Indication Inherited MMR deficiency (Lynch syndrome) Genes EPCAM, MLH1, MSH2, MSH6, PMS2 Turn Around Time 42 days
Code R211 Clinical Indication Inherited polyposis and early onset colorectal cancer ‐ germline testing Genes APC, BMPR1A, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, SMAD4, STK11 Turn Around Time 84 days
Code R414 Clinical Indication APC associated Polyposis Genes APC Turn Around Time 42 days