National Specialist Testing


Specialist genomic tests will be delivered by a limited set of Genomic Laboratory Hubs that have the necessary service expertise.

From the 1st February 2021 these specialist services are now live, and the laboratories will deliver services according to the National Genomic Test Directory and in line with the rare and inherited disease eligibility criteria.

Whilst the majority of tests will be available at the start of this service, there will be a small number that will be phased into service up to 1st April 2021 or are awaiting the full clinical ramp up of Whole Genome sequencing.

The genetic laboratories across the region have been working hard over the last year to implement the changes required to deliver the new genomic test directory. As services develop and are nationally aligned to agreed standards, we hope you will start to see real clinical benefits to your patients.

We welcome any feedback or questions you may have as the new services embed.

Before sending a patient sample please check against the relevant eligibility criteria doumentation.

Testing is now separated into core and specialist testing:

1) Core Rare Disease Tests
These represent the tests most commonly requested by Clinical Genetics, Paediatrics, Oncology, Lipid Clinics and Fetal Medicine Units.

2) Specialist Rare Disease Tests
These can be requested directly by clinicians within the relevant Clinical Specialities as outlined in the eligibility criteria document.

The following specialist services for the region will be led and provided by laboratories within the NEY-GLH:
• Gastohepatology
• Haematology
• Inherited cancer
• Mitochondrial
• Musculoskeletal Neurology
• Renal – Atypical Haemolytic Uraemic Syndrome Highly Specialist Service
• Respiratory

The remaining specialist services will be led by GLHs outside our region:
• Skin (North Thames GLH)
• Hearing (North West GLH)
• Cardiology (North West GLH)
• Endocrinology (multiple GLHs)
• Immunology (North West GLH)
• Metabolic (North West GLH)
• Eyes (North West GLH)
• Renal (multiple GLHs)

Familial targeted testing, with the exception of prenatal testing, will be carried out by the specialist providers. This includes members of families where the clinically significant familial variant may have been identified in a different laboratory. The home laboratory will liaise with the specialist provider to ensure appropriate controls are available.

Targeted prenatal testing will become the responsibility of the local laboratory in order to keep turnaround times to a minimum and facilitate close communication with fetal medicine.

Send EDTA Blood (2-5 ml) for all genetic testing except karyotype.
Send Heparin Blood (2-5 ml) for Karyotype testing only.

Each test has been assigned an ‘R code’. It is important that this is completed, if this information is not given it may delay testing. The referring clinician and referring hospital details must also be completed clearly (without use of abbreviations) to ensure the result is reported correctly.

Continue to send samples to your local genomics laboratory who will arrange export to the appropriate service.

Tests that fall outside the directory will no longer be funded.

National Genomic Test Directory

The 2020/2021 National Genomic Test Directory for rare and inherited disorders and cancer.

View Directory