Here we share information about updates to the National Genomic Test Directory and any updates to our lab processes and procedures that may affect how you request tests or receive results.
You can use the filters below to identify specific types of update or updates related to a particular specialism (theme).
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Cancer directory update (April 2026)
Updates to the national genomic test directory include restructuring of tests in preparation for a digital NGTD.
Rare disease directory update (April 2026)
Updates to the national genomic test directory include changes in neurology, developmental disorders, inherited cancer, chromosomal disorders and more.
Expanding access to chromosome analysis and improving reporting
Creation of new clinical indications allows more specialties in fetal, paediatric and fertility care to order testing.
More comprehensive reporting for neurological whole genome sequencing tests
A new gene panel will ensure more neurological whole genome sequencing tests produce actionable results without needing reanalysis
Further simplification of genomic testing for developmental disorders
Testing for developmental disorders including intellectual disability and early-onset epilepsy should prioritise while genome sequencing via R27.
Ongoing delays to large panel cancer testing
We apologise for ongoing delays affecting large panel cancer tests processed at our Cambridge lab. Work is ongoing to address the issue.
Expanded criteria for testing to inform adjuvant breast cancer PARP inhibitor therapy
More HR+ HER2- breast cancer patients may now be eligible for R444 testing in line with latest changes to the Cancer Drug Fund
Further Diagnostic Discovery reports now being sent
Reports containing new clinical findings relevant to care for participants in the 100,000 Genomes Project are now being sent out.
Nottingham lab service delays
Reduced staff mean some tests at our Nottingham lab may take longer than usual. Please contact the lab if results are needed urgently.
New email for rare disease WGS in Cambridge
Please send rare disease WGS requests to: cuh.eastglh-rarediseases-wgs@nhs.net
Migration of RNA fusion testing to Cambridge
HaemOnc RNA fusion testing will now be performed in Cambridge in place of Newcastle for those in the East region. Please direct requests to the Cambridge lab.
Easier sampling for cancer whole genome sequencing
RNAlater makes it easier to collect tumour samples for WGS where fast freezing is not possible. Contact CUH histopathology to request kits.
Diagnostic discovery reporting of whole genome sequencing
Reports from the Diagnostic Discovery pathway contain new clinical findings for WGS patients that are based on recent research and technological developments and may be relevant to patient care.
Ovarian cancer reflex HRD testing guidance
Reflex HRD testing of high grade ovarian cancers via East Genomics can streamline access to PARP inhibitor treatments.
Solid cancer service updates - Cambridge Lab
There is a new form for ordering solid cancer testing via our Cambridge Lab and reports may now include additional variants relevant for clinical trial access
Cambridge sequencing delays
Processing of HaemOnc next-generation sequencing tests in Cambridge has been temporarily delayed by a logistical issue.
Nottingham lab accreditation
UKAS accreditation for our Nottingham lab has been restored under a consolidated identifier 8031.
Leicester NHS.net email migration
Contact our Leicester lab on uhl-tr.cytogeneticsmailbox@nhs.net
Inherited cancer testing for Olaparib/Talazoparib in breast cancer
From August PALB2 variants will be included in R444.1 tests for PARP inhibitor treatment in breast cancer
Making effective use of the genomic medicine service
Our Right Test, First Time guidance can help you to make the best use of our services, with particular information for familial hypercholesterolaemia (R134) referrals.