- Diabetes Genes
- About Neonatal Diabetes
About Neonatal Diabetes
Neonatal Diabetes Mellitus (NDM) diagnosed before 6 months is a rare disease (approximate incidence of 1:100,000 live births) that reflects severe β cell dysfunction.
Two separate studies (Edghill et al., 2006b, Iafusco et al., 2002) have shown that diabetes diagnosed before 6 months of age is most likely to have a monogenic cause rather than being due to autoimmunity.
There are many different subtypes of neonatal diabetes defined by different genetic causes. Identifying the genetic causes of neonatal diabetes is not only relevant for patients, but also gives insights into which genes are needed for β cell formation and function.
Currently genetic testing finds a genetic diagnosis for over 85% of patients with neonatal diabetes. We provide genetic testing for neonatal diabetes for individuals with diabetes diagnosed before 9 months of age anywhere in the world and regardless of their current age.
July 2022: Patients Referred from 109 Countries
Edghill EL, Dix RJ, Flanagan SE, Bingley PJ, Hattersley AT, Ellard S, Gillespie KM. HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes. 2006 Jun;55(6):1895-8. PubMed PMID: 16731860
Iafusco D, Stazi MA, Cotichini R, Cotellessa M, Martinucci ME, Mazzella M, Cherubini V, Barbetti F, Martinetti M, Cerutti F, Prisco F; Early Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology. Permanent diabetes mellitus in the first year of life. Diabetologia. 2002 Jun;45(6):798-804. Epub 2002 May 3. Erratum in: Diabetologia. 2003 Jan;46(1):140. PubMed PMID: 12107723.
De Franco E, Flanagan SE, Houghton JA, Lango Allen H, Mackay DJ, Temple IK, Ellard S, Hattersley AT. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet. 2015 Sep 5;386(9997):957-63. doi: 10.1016/S0140-6736(15)60098-8. Epub 2015 Jul 28. PubMed PMID: 26231457; PubMed Central PMCID: PMC4772451.