Diabetes Genes

Tests for Diabetes Subtypes



Welcome to the Exeter laboratory diabetes testing page where you can access the following:

  • Monogenic diabetes testing guidelines and background information for clinicians and patients. The current ISPAD guidelines for monogenic diabetes can be accessed at https://doi.org/10.1111/pedi.12772.
  • Genetic tests for diagnosing subtypes of monogenic diabetes.
  • Non-genetic tests (islet auto-antibody and C-peptide testing) to help discriminate Type 1 diabetes from Type 2 and monogenic diabetes.
  • Request forms for monogenic diabetes testing.

Please click on the relevant link in the blue box on the right of the screen to access this information.


Our Genomics Laboratory


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.



Gene Tests

To discuss where a test which is not performed in-house will be referred to please contact the laboratory.


2018 ISPAD Clinical Practice Consensus Guidelines for the diagnosis and management of monogenic diabetes in children and adolescents


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:

  • Autosomal dominant familial mild hyperglycaemia or diabetes (MODY) subtypes GCK, HNF1A & HNF4A.
  • Permanent and transient neonatal diabetes including 6q24, KATP, INS, EIF2AK3 and GCK related NDM
  • Genetic syndromes associated with diabetes including Wolfram syndrome (WFS1), renal cysts and diabetes (RCAD) syndrome (HNF1B) and mitochondrial diabetes (m.3243A>G)
  • Monogenic lipodystrophy and insulin resistance syndromes including LMNA, PPARG and INSR related insulin resistance.
  • Ciliopathy-related insulin resistance and diabetes: Alström and Bardet-Biedl syndromes

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.