South East GLH: Specialist testing for rare diseases

Dear Colleagues,

Re: Specialist Genomic Testing for Rare Diseases across South East England

We wish to inform you that from the 1st February 2021 all genomic tests should be ordered in line with the National Genomic Test Directory for rare inherited diseases

In addition to the Core repertoire of Rare Disease genomic tests, you will now be able to request through the South East GLH, specialist genomic tests as defined in the National Genomic Test Directory.

Genomics tests are now commissioned and funded through NHS England and Improvement, so you will not be invoiced for tests that meet the criteria specified in the National Genomic Test Directory for rare inherited diseases. Patient eligibility criteria and guidance for appropriate testing can also be found on the national test directory web page.

The South East GLH:

NHS England have reconfigured genetic laboratory services and recently commissioned 7 national Genomic Laboratory Hubs (GLH). The South East GLH, a network of leading foundation trusts and pathology providers, is your local Genomics Laboratory Hub and has been commissioned to deliver all genomic testing services across South London, Kent, Surrey and Sussex. More information about the NHSE South East Genomic Medicine Service Alliance (GMSA) and GLH can be found here:

Requesting a Test and Sample Requirements:

This new service model may result in a change to how you order tests or to the design of the reports you receive. We are currently in the process of implementing new South East GLH referral forms which will be available from our website prior to 1st February 2021. The website will also have important additional information on how to order these tests, including using the National Genomic Test Directory Clinical Indication ID, sample requirements and turnaround times (

Please be aware that whilst you will order a test through the South East GLH, for some specialist tests, we will send samples onto the appropriate national GLH provider and you will receive the reports directly from the testing GLH. The full list of specialist test categories are listed in Annex 1.

We will also shortly provide an update on the newly commissioned genomic cancer testing.

We would be grateful if you could cascade this information to all relevant clinical and laboratory teams within your organisation. We look forward to working with you and if you have any queries please email

Yours sincerely

Richard Hall
SE GLH Ops Director

Sean Whittaker
SE GLH Medical Director

Deborah Morris-Rosendahl
SE GLH Scientific Director


Annex 1: Genomic Specialist Test Categories

RD Specialist ServiceMain Providers of Specialty
CardiologySouth East GLH
GastrohepatologySouth East GLH
HaematologySouth East GLH
NeurologySouth East GLH
RespiratorySouth East GLH
SkinSouth East GLH
EndocrinologySouth West GLH
EyesNorth Thames GLH
HearingNorth Thames GLH
ImmunologyNorth Thames GLH
Inherited CancerNorth Thames GLH
MetabolicNorth Thames GLH
MitochondrialNorth Thames GLH
MusculoskeletalNorth Thames GLH and Central & South GLH
NIPDNorth Thames GLH
RenalNorth Thames GLH and North East & Yorkshire GLH

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With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.