Inherited Metabolic Disease Laboratory

Laboratory overview

We are a UKAS accredited medical laboratory (No.9093), accredited to ISO15189:2022 for the tests listed in the schedule of accreditation available on the UKAS website (https://www.ukas.com/wp-content/uploads/schedule_uploads/00007/9093-Medical-Single.pdf). Any tests not currently accredited, are noted as such in the test details on this website. Tests for the detection of biochemical analytes using mass spectrometry technologies are include in the laboratory's UKAS flexible scope accredited to ISO15189:2022, as described in the 'Management of UKAS Flexible Scope' document (see below). All tests currently included within that flexible scope are listed in the 'Record of tests included in Flexible Scope' document (also below). 

Our laboratory is routinely involved in the investigation process for patients with suspected metabolic disorders and the monitoring of patients with known disease.  We have a wide range of external users including local district general hospitals and large teaching trusts who refer their specialist metabolic investigations to Synnovis. A number of departments from within Guy's and St Thomas' also use our services and we have strong links with the paediatric and adult metabolic clinical team based in the Evelina hospital.

Our staff are highly qualified, motivated scientists. The laboratory prides itself on its exceptional customer service, with trained metabolic clinical scientists routinely available to provide advice for test selection, sample requirements and interpretation of complex results.

Urgent, same day analyses can be accommodated for most tests and targets are for quick turnaround times on routine assays.

The Evelina London Children’s Hospital provides the regional Inherited Metabolic Disease (IMD) service for South Thames, covering London, Kent, Sussex, Surrey and beyond with outreach clinics at Plymouth, Portsmouth, Cambridge and Norwich. Over 300 new patients are seen each year with more than 200 ward admissions. An integral part of this service is the Multi-Disciplinary Team (MDT) approach. The MDT brings together staff with the necessary knowledge, skills and experience to ensure high quality diagnosis, treatment and care. All relevant professionals / disciplines are represented and the team meets regularly to discuss patients.

Membership of the Evelina Metabolic MDT includes Consultant Metabolic Paediatricians, Adult Metabolic Physicians, Metabolic Dieticians, Clinical Nurse Specialists and Healthcare Scientists from Viapath and The Well Child Laboratory. In view of this we wish to inform all our Users, both internal and external, that any patient with laboratory results that indicate further testing and/or follow up is required, may be discussed with members of the MDT. In the event that urgent clinical follow up is warranted, a member of the MDT may contact the referring clinician directly. By continuing to refer samples to Synnovis you are accepting of this process.

Key features

• The unit offers a wide range of services and uses technology such as LC-MSMS to perform metabolite profiling to detect abnormalities in physiological pathways.
• We are a Centre of Excellence for the provision of metabolic testing and also for the training of scientists specialising in IMD.
• Our research and development projects focus on service improvement, strengthening the repertoire of specialist tests and taking innovative approaches to improve diagnostic capability. 
• We have a strong track record training specialists in IMD and take many scientists on secondment. 
• Within the NHS Specialised Service Commissioning framework, the laboratory is a nationally commissioned service along with our paediatric and adult clinical teams based at the Evelina London.