Diabetes Genes

HNF1A HNF4A Gene Analysis

Hepatocyte Nuclear Factor 1-Alpha (HNF1A) Hepatocyte Nuclear Factor 4-Alpha (HNF4A) Gene Analysis in Maturity-onset Diabetes of the Young (HNF1A MODY & HNF4A MODY)

Mutations in the HNF1A gene are the most common cause of MODY in the UK, accounting for approximately 52% of MODY families (Shields et al 2010 Diabetologia 53, 2504-2508).  HNF4A mutations are less frequent, accounting for approximately 10% of MODY families where HNF1A analysis has proved negative. Both types of MODY respond to treatment with sulphonylureas although due to the progressive nature of the insulin secretory defect, insulin may be required in later life. HNF4A mutations cause macrosomia in ~50% of individuals and ~10% have transient neonatal hypoglycaemia (Pearson et al 2007 PLoS Medicine 4, 760-769).

  • Sequencing of exons 1 to 10 and splice sites of the HNF1A gene
  • Sequencing of the P2 promoter, exons 1d to 10 and splice sites of the HNF4A gene
  • Testing for known HNF1A and HNF4A mutations by Sanger sequencing



Sample required: 5-10ml of EDTA blood, or DNA samples (minimum 5µg)
Reporting time: Mutation screening – 8 weeks (40 working days)

Known mutation tests – 4 weeks (20 working days)

Cost: Sanger Sequence analysis of HNF1A and HNF4A £450.00
(Please note there will be an additional 25% overhead for non-NHS tests)  

Testing for a known HNF1A or HNF4A mutation by Sanger sequencing

MODY Request Form – use for GCK, HNF1A, HNF4A, MIDD, and other rare types of diabetes


Mutation detection rate for sample


The laboratory participates in the monogenic diabetes sequencing and gene dosage European Molecular Genetics Quality Network (EMQN) schemes.