Diabetes Genes

Genetic Testing for Neonatal Diabetes

Genetic testing for neonatal diabetes can be provided free of charge through research funding for patients with diabetes diagnosed before 9 months of age anywhere in the world and regardless of their current age. Please contact Dr Elisa De Franco (email below) to confirm whether free genetic testing can be provided for your patient.

Before sending a sample, please complete the form below electronically and email it to e.de-franco@exeter.ac.uk. This will allow us to pre-log the patient on our database and start the test as soon as the sample is received. Please include samples from both parents whenever possible – whether affected or unaffected. Testing of parental samples is often key to obtain a genetic diagnosis since the majority of mutations causing neonatal diabetes are found to have arisen spontaneously in patients.

Neonatal-Diabetes-Request-Form.docx Consent For Diabetes Testing


Samples must be labelled with name and date of birth. Please send either

  1. 3-5 ml of blood (our preferred option) taken in tubes containing EDTA and transported fresh (not frozen) at room temperature to arrive in the UK within 5 days. Blood samples should be sent in leak-proof packaging and include absorbent material to absorb any leakage.OR
  2. Send 2-10 micrograms of DNA at room temperature. Again please make sure the tube is very securely sealed. Additional DNA will help us to test for further causes of neonatal diabetes.

The samples and a printed copy of the neonatal diabetes request form (link) should be sent to: Prof Sian Ellard, Genomics Laboratory, RILD Level 3, Royal Devon and Exeter Hospital, Barrack Road, Exeter, EX2 5DW, UK

When the samples are delivered to the Exeter laboratory, you will receive an automated email confirming samples receipt.

The samples will be first tested for the most common causes of neonatal diabetes (mutations in the ABCC8, KCNJ11, and INS genes) by Sanger sequencing, unless testing for a different gene is recommended. The results will be emailed to the referring clinician within 1-2 weeks from sample receipt.

If a causative mutation is not identified after this first test, the patient’s sample will be tested for mutations in all known neonatal diabetes genes using our targeted next generation sequencing assay. A report will be emailed to the clinician 2-3 months after the first genetic report. Patients with transient neonatal diabetes or aged less than 1 year at referral will also be tested for 6q24 methylation abnormalities.

Using these tests we are currently able to find a genetic diagnosis for 82% of patients with neonatal diabetes!

If you have any questions or are not sure whether your patient should be tested for neonatal diabetes, please contact E.De-Franco@exeter.ac.uk.

For clinical advice please contact Prof Andrew Hattersley by e-mail a.t.hattersley@exeter.ac.uk