Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by autosomal dominant mode of inheritance, onset of non-insulin-dependent diabetes usually before 30 years of age, and reduced glucose-stimulated insulin secretion.
- Age at onset of diabetes is <30 years
- Family history of diabetes in one or both parents of the proband
- BMI ≤ 30 (kg/m2)
- Correction of hyperglycaemia for a minimum period of 2 years without insulin.
- Absence of ketonuria at any time
- Evidence of autosomal dominant inheritance
Significance of genetic testing:
MODY is often misdiagnosed as type 1 or type 2 diabetes (T2DM) as there is significant overlap in clinical features and hence the importance of genetic screening for MODY mutations. A genetic diagnosis of monogenic diabetes can have a significant impact on patient care.
Genes screened for MODY:
MODY is a heterogeneous group of diabetes caused by single gene defects in at least 13 genes affecting pancreas development and beta-cell function.
|HNF4A (MODY 1)
||CEL (MODY 8)
|GCK (MODY 2)
||PAX4 (MODY 9)
|HNF1A (MODY 3)
||INS (MODY 10)
|IPF1 (MODY 4)
||BLK (MODY 11)
|HNF1B (MODY 5)
||ABCC8 (MODY 12)
|NEUROD1 (MODY 6)
||KCNJ11 (MODY 13)
|KLF11 (MODY 7)
Requirements for the genetic testing
Detailed clinical history along with blood/DNA samples from the patient, both parents and affected/unaffected siblings are required.
It is Mandatory to fill the concent form and send along with the sample.
Download MODY Registration Form | Online MODY Registration
It is mandatory to fill this before any genetic testing has done.