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.
Clinical features:
- 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) |
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Requirements for the genetic testing
Detailed clinical history along with blood/DNA samples from the patient, both parents and affected/unaffected siblings are required.
Consent Form
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. |