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Rare disease sequencing delays

Service Update on the delays in East GLH Rare Disease Next Generation Sequencing and whole genome sequencing testing service

We are still experiencing delays in delivery of the East GLH Rare Disease Next Generation Sequencing (NGS) and whole genome sequencing (WGS) testing services due to the ongoing pressures across our genomic services and increases in testing volume.

We are prioritising urgent testing and those tests with direct influence on patient management. We are doing everything we can to minimise the impact on non-urgent tests however we appreciate that there is a significant delay to returning results. We are very sorry for the impact that this is having on you and your patients.

Work continues across our services to resolve these delays, including outsourcing of some of our NGS tests to other ISO accredited laboratories.

If the results of testing will affect imminent treatment decisions for any of your patients, we can prioritise their testing. For these patients, please mark their test order form as urgent and tell us the reason for urgency to enable the team to prioritise testing appropriately.

If you have already ordered a test and a result is now considered urgent, please send the relevant details to the Cambridge Genomics Laboratory – cuh.geneticslaboratories@nhs.net