Laboratory of Molecular Endocrinology
Disorders of glucose metabolism
- Monogene Diabetes Mellitus
– Neonatal Diabetes Mellitus
– MODYA) INFORMATION NOTE FOR MONOGENIC SDB) CONSENT FORMC) INSTRUCTIONS FOR BLOOD DRAWING AND SHIPPING
- Congenital HyperinsulinismA) INFORMATION NOTE ON CONGENITAL HYPERSULINISMB) CONSENT FORM
The above diseases are controlled by the NGS methodology and targeted control of the genes: GCK , HNF1A , HNF4A , HNF1B , INS , ABCC8 , KCNJ11 , GLUD1 , HK1 , PGM1 , SLC16A1 , PMM2 , INSR , TRMT10A , HAD