Rare Disease testing
The Viapath Genetics laboratory at Guy’s Hospital is the hub laboratory of the SE GLH.
For accredited tests refer to the UKAS website here UKAS: Search Accredited Organisations – UKAS number 8688. The Genetics Centre provides a service to the former South East Thames NHS region, with an estimated population of 3.8 million. It is a member of the South East England Genetics Network (SEEGen) which is a consortium comprising laboratories and genetic clinics within South East England serving a total population of 14.2 million.
In addition, the laboratories receive a large number of national and international referrals for an increasing number of highly specialised genetic tests.
As well as providing a comprehensive diagnostic service, the Viapath Genetics Laboratory has an active research and development programme with close affiliation to the GSTT Biomedical Research Centre.
SE GLH: Non-WGS Genetic test request form
It is the referring clinician’s responsibility to ensure that the patient/carer knows the purpose of the test and that the sample may be stored for future diagnostic testing.
Results will be returned by email to the referring clinician at the email address provided on the request form. Please provide an nhs.net account and also include a departmental account if available.
For Whole Genome Sequencing (WGS) a separate WGS Test Order Form and Record of Discussion form is required. Please visit the RD WGS page to view these and check patient eligibility.
Other request forms
Genetic testing for Congenital Muscular Dystrophy (R79) and Congenital Myopathy (R81) is available via the National Genomic Test directory. However it is part of a highly specialised service (HSS), led by the Dubowitz Neuromuscular Centre at Great Ormond Street Hospital, that offers genetic and pathology diagnosis and clinical advice. Detailed clinical information is essential to help with genetic analysis and variant interpretation as well as to offer clinical advice once genetic testing is complete. Therefore the clinical information form linked below must be completed for every patient referred for genetic testing to the SE GLH.
The full list of tests offered can be found in the National Test Directory. This specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access to a test.
Inherited cancers are classified as a rare disease in the National Test Directory, please use the Non-WGS Genetic Test request form when ordering an inherited cancer test.
Please follow the below links for more information on these tests:
SE GLH: Record of Discussion form
The Record of Discussion form can be downloaded and used to guide and record the patient’s consent. This should be saved in local patient records and does not need to be sent with the request form.
Sample type and requirements
For information on the samples required for specific tests, please view the SE GLH Test Index & Sample Requirements (last updated Jan 2021). For any tests not listed in the index please send 1-3ml EDTA blood.
Whilst the GLH network aims to report all results according to NHSE indicated turnaround times (click to enlarge table below), there are occasions where complex working patterns and findings may result in extended reporting times.
Please note that during the COVID-19 pandemic and service reconfiguration, turnaround times for non-urgent tests will extend beyond targets.
Lab address and opening hours
For clinical enquiries
Clinical enquiries should be referred to the local Clinical Genetics Service – Genetic Counsellor or Consultant on duty.