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Genetic Testing for Neonatal Diabetes

Genetic testing for neonatal diabetes is indicated for patients diagnosed with diabetes before 9 months of age regardless of their current age.

Genetic testing for this condition is supported in Exeter through crowd-funding for any individual who is unable to access testing through their healthcare provider or can not meet the associated costs via personal means. Funding for free testing is limited and in order to ensure that these charitable funds are only being used to help those most in need, please confirm that the patient is eligible for free testing by return of email along with a completed neonatal diabetes request form to Elisa De Franco (e.de-franco@exeter.ac.uk) prior to sending the samples.

· The cost of genetic testing for non-NHS patients who are able to pay is £1250 GBP:

This includes urgent testing of ABCC8, KCNJ11, and INS : Report issued in 1-2 weeks.
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.

· Parental samples

Testing of parental samples is often key to obtain a genetic diagnosis since the majority of variants causing neonatal diabetes are found to have arisen spontaneously in patients. Please include samples from both parents whenever possible – whether affected or unaffected. The cost of parental testing is £125 GBP per sample however, parental samples sent at the same time as the proband will not be charged for testing.

· Samples details

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 should be sent to: Exeter Genomics Laboratory, RILD Level 3, Royal Devon University Healthcare NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.

EGL-Neonatal-Diabetes-Request-Form-Mar-2022.docx

 

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