Welcome to the Exeter laboratory diabetes testing page where you can access the following:
Please click on the relevant link in the blue box on the right of the screen to access this information.
We deliver high quality genetic and genomic testing for both NHS and research patients by combining the innovation and academic expertise of research scientists with the rigorous quality approach required in a clinical diagnostic service.
Our clinical diagnostic facility is underpinned by world-class research, state of the art technology, scientific, bioinformatics and clinical expertise. This vision has enabled rapid implementation of exome, genome and targeted next generation sequencing to improve diagnosis of rare disease.
The laboratory participates in the Monogenic Diabetes and Sequencing European Molecular Genetics Quality Network (EMQN) schemes.
To discuss where a test which is not performed in-house will be referred to please contact the laboratory.
New guidelines for the diagnosis and management of monogenic diabetes have been published in the journal pediatric diabetes. These in-depth guidelines cover a range of monogenic diabetes subtypes including:
A description of the characteristic clinical features of each monogenic subtype is provided along with advice on clinical management.
Guidance is given on identifying patients most likely to have a diagnosis of monogenic diabetes, and advice on distinguishing monogenic diabetes cases from patients with type 1 and type 2 diabetes.
For diagnostic laboratories, appropriate genetic testing strategies and the utility of next generation sequencing are discussed, along with guidance for variant interpretation and reporting using the ACMG variant classification and reporting guidelines.
The article can be accessed here: https://doi.org/10.1111/pedi.12772
Hattersley AT, Greeley SAW, Polak M, et al. ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 2018;19 (Suppl. 27):47–63.