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).
All content
Pregnancy loss testing (R22, R318) in Cambridge
From 1st June East Genomics will implement changes in our Cambridge lab to simplify testing for pregnancy loss samples referred under clinical indications R22 or R318.
Rare disease directory update (May 2025)
The national genomic test directory specifies which genomic tests are commissioned by the NHS in England and the patients who are eligible to access to each test. The directory is regularly updated and clinicians should check the current version of the directory before referring patients.
Cancer directory update (May 2025)
The national genomic test directory specifies which genomic tests are commissioned by the NHS in England and the patients who are eligible to access to each test. The directory is regularly updated and clinicians should check the current version of the directory before referring patients.
Rare disease routing changes within East Genomics
If you refer samples for DNA-based testing (e.g. gene panels, microarrays, targeted tests) to our labs in Leicester or Nottingham, the reports that you receive for some rare disease tests will soon start to be issued from different East Genomics labs.
Myeloproliferative neoplasm referrals (Cambridge)
Method update: Myeloproliferative neoplasm referrals, confirmation testing
Report changes for BCR::ABL1 tests
From 10th March 2025 a new assay will be in use at our Cambridge lab for BCR::ABL1 blood tests. This will change the way reports look for leukaemia tests M84.2, M89.13, M80.13 and M91.9. The below document includes example reports in the new format.
Simplification of developmental disorder testing
Simplification of developmental disorder testing (Rare Diseases)
Nottingham lab accreditation
Nottingham Genomics and Molecular Medicine Service ISO 15189 UKAS Accreditation: Suspension
Rare disease directory update (Jan 2025)
The national genomic test directory specifies which genomic tests are commissioned by the NHS in England and the patients who are eligible to access to each test. The directory is regularly updated and clinicians should check the current version of the directory before referring patients.
Interim ESR1 genomic sample routing pathway
The national genomic test directory specifies which genomic tests are commissioned by the NHS in England and the patients who are eligible to access to each test. The directory is regularly updated and clinicians should check the current version of the directory before referring patients.
Pregnancy loss testing
Important information regarding the East GLH pregnancy loss testing service
Rare disease directory update (Sept 2024)
The national genomic test directory specifies which genomic tests are commissioned by the NHS in England and the patients who are eligible to access to each test. The directory is regularly updated and clinicians should check the current version of the directory before referring patients.
Renal test changes
Important changes to Renal tests in the Rare and Inherited Disease Test Directory
Rare disease directory update (July 2024)
The national genomic test directory specifies which genomic tests are commissioned by the NHS in England and the patients who are eligible to access to each test. The directory is regularly updated and clinicians should check the current version of the directory before referring patients.
Nottingham lab accreditation suspension
Nottingham Genomics and Molecular Medicine Service ISO 15189 UKAS Accreditation: Suspension
Inherited cancer test delays - update
Update to germline cancer genomic testing for patients
Rare disease directory update (Feb 2024)
The national genomic test directory specifies which genomic tests are commissioned by the NHS in England and the patients who are eligible to access to each test. The directory is regularly updated and clinicians should check the current version of the directory before referring patients.
Rare disease directory update (Jan 2024)
The national genomic test directory specifies which genomic tests are commissioned by the NHS in England and the patients who are eligible to access to each test. The directory is regularly updated and clinicians should check the current version of the directory before referring patients.
Li Fraumeni Syndrome testing (R216)
Important change to R216 - Li Fraumeni Syndrome testing
Rare disease directory update (Oct 2023)
The national genomic test directory specifies which genomic tests are commissioned by the NHS in England and the patients who are eligible to access to each test. The directory is regularly updated and clinicians should check the current version of the directory before referring patients.