South East GLH: Testing for Familial Hypercholesteroleamia


Re: Genomic Testing for Familial Hypercholesterolaemia (Genomics National Test Directory Code – R134)

Dear Colleagues,

I am writing to advise you that all requests for genomic testing of NHSE patients for familial hypercholesterolaemia (FH) should be sent to your local South East Genomics Laboratory Hub (SEGLH) at Guy’s Hospital.

For some colleagues, this may result in a change to the design of laboratory tests that you receive.

South East GLH (formerly London South GLH) and the new NHSE Genomics Medicine Service:

NHS England are reconfiguring the way genomic and genetic laboratory services are delivered. They have established 7 Genomic Laboratory Hubs to lead this reconfiguration. The South East GLH (SEGLH), a network of leading foundation trusts and pathology providers, has been commissioned to deliver the genomics laboratory service across South London, Kent, Surrey and Sussex. More information about the new NHSE national Genomics Medicine Service and the South East GLH can be found here:

The key requirements of the reconfiguration are to consolidate genomic testing activity across our region and nationally, and to standardise provision of services with a new national genomics test directory. Funding for NHSE patients will be commissioned centrally.

NHSE Genomics testing for Familial Hypercholesterolaemia:

The commissioned test for FH currently includes analysis of variants in the following five genes; APOB, APOE, LDLR, LDLRAP1 and PCSK9. Polygenic risk scoring (PRS) is not currently available as part of the nationally commissioned service and will not therefore be provided for the time being. For some colleagues, this may result in a change to the laboratory tests that you receive.

Further information on the testing criteria and any overlapping clinical indications can be found within ( under ‘R134 Familial hypercholesterolaemia’.

The genomics national test directory will be updated periodically and NHSE have established a process to ensure that updates have appropriate clinical and scientific governance. In addition, a national specialist working group has been established for FH where PRS is being evaluated for inclusion to the directory.

Referral Pathway:
Viapath is the pathology provider of the South East genomics hub laboratory, which includes testing for FH. A minimum of 3ml of peripheral blood in an EDTA tube is required. Please find attached a copy of the current Viapath genomics test request form.

Once completed all samples and forms must be sent directly to the Viapath Genetics Laboratory.

Lab Enquiries

Viapath Genomics Laboratories:
Opening Hours: Monday to Friday, 9am – 5pm
Tel: 0207 188 1696/1709
Email: (general enquiries)
Monogenics Laboratory Lead: David Ellis (

Genetics Laboratories
5th Floor Tower Wing
Guy’s Hospital
Great Maze Pond

Yours sincerely

Richard Hall
South East GLH Director of Operations

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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.