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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessDiabetes mellitus, MODY


Short information

Comprehensive differential diagnostic panel for Diabetes mellitus, MODY comprising 6 guideline-curated and another 7 curated genes according to the clinical signs

Number of genes
13 Accredited laboratory test
Examined sequence length
16,7 kb (Core-/Base-Genes)
20,8 kb (Extended panel)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ABCC84746AD and/or AR
GCK1398AD and/or AR
HNF1A1896AD and/or AR and/or Dig and/or Sus
HNF1B1674AD and/or Sus
HNF4A1359AD and/or Dig and/or Sus
INS333AD and/or AR
KCNJ111173AD and/or AR and/or Ass
NEUROD11071AD and/or AR
PDX1852AD and/or AR and/or Dig and/or Sus
PAX41056AD and/or AR

Informations about the disease

Clinical Comment

MODY is the most common form of monogenic diabetes. The clinical features of MODY vary according to genetic aetiology. Most common subtypes are HNF1A-MODY (30-50%), GCK-MODY (30-50%), HNF4A-MODY (10%) and HNF1B-MODY (1-5%). The latter is also known as kidney cysts and diabetes syndrome. At least nine other less common genetic subtypes have been described. Patients with HNF1A and HNF4A mutations have slowly progressive beta cell dysfunction. Vascular complications of diabetes are observed with a similar frequency to type 1 or type 2 diabetes. GCK-associated MODY is characterised by asymptomatic, non-progressive mild fasting hyperglycaemia with low postprandial glucose excursions from birth and is not associated with vascular complications. Indications for genetic testing for MODY include the occurrence of diabetes in adolescence or young adulthood, maintenance of endogenous insulin production and usually a significant family history of diabetes. Inheritance is usually autosomal dominant; penetrance values vary according to mutated genes.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK500456/


  • CAVE BLK, KLF11, PAX4 genes: evidence for causing MODY needs to be expanded/confirmed
  • Allelic: Cataract 41 (WFS1)
  • Allelic: Deafness, AD 6/14/38 (WFS1)
  • Allelic: Diabetes mellitus, insulin-dependent (HNF1A)
  • Allelic: Diabetes mellitus, insulin-dependent, 20 (HNF1A)
  • Allelic: Diabetes mellitus, ketosis-prone, susceptibility to (PAX4)
  • Allelic: Diabetes mellitus, noninsulin-dependent (ABCC8, HNF1B, HNF4A)
  • Allelic: Diabetes mellitus, noninsulin-dependent, 2 (HNF1A)
  • Allelic: Diabetes mellitus, noninsulin-dependent, late onset (GCK)
  • Allelic: Diabetes mellitus, permanent neonatal (ABCC8, GCK, INS)
  • Allelic: Diabetes mellitus, permanent neonatal, with neurologic features (KCNJ11)
  • Allelic: Diabetes mellitus, transient neonatal 2 (ABCC8)
  • Allelic: Diabetes mellitus, transient neonatal, 3 (KCNJ11)
  • Allelic: Diabetes mellitus, type 1 (INS)
  • Allelic: Diabetes mellitus, type 2 (PAX4)
  • Allelic: Diabetes mellitus, type 2, susceptibility to (KCNJ11, PDX1, NEUROD1)
  • Allelic: Hepatic adenoma, somatic (HNF1A)
  • Allelic: Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
  • Allelic: Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
  • Allelic: Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
  • Allelic: Hyperproinsulinemia (INS)
  • Allelic: Hypoglycemia of infancy, leucine-sensitive (ABCC8)
  • Allelic: Pancreatic agenesis 1 (PDX1)
  • Allelic: Renal cell carcinoma (HNF1A, HNF1B)
  • Allelic: Renal cysts and diabetes syndrome (HNF1B)
  • Diabetes mellitus, noninsulin-dependent, association with (WFS1)
  • Fanconi renotubular syndrome 4, with MODY (HNF4A)
  • MODY, type I (HNF4A)
  • MODY, type II (GCK)
  • MODY, type III (HNF1A)
  • MODY, type IV (PDX1)
  • MODY, type IX (PAX4)
  • MODY, type VI (NEUROD1)
  • MODY, type VII (KLF11)
  • MODY, type VIII (CEL)
  • MODY, type X (INS)
  • MODY, type XI (BLK)
  • MODY, type XIII (KCNJ11)
  • MODY, type XIV (APPL1)
  • Mitchell-Riley s.: neonat. diab., pancreatic hypopl., intest. atresia, gallbladder a-/hypopl. (RFX6)
  • Wolfram syndrome 1 (WFS1)
  • Wolfram-like syndrome, AD (WFS1)
Heredity, heredity patterns etc.
  • AD
  • AD and/or AR
  • AD and/or AR and/or Ass
  • AD and/or AR and/or Dig and/or Sus
  • AD and/or Dig and/or Sus
  • AD and/or Sus
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined