Diabetes Genes

GCK Gene Analysis in Maturity-onset Diabetes of the Young (GCK MODY)

GCK gene mutations are associated with mild, stable hyperglycaemia.  A fasting blood glucose of 5.5 – 8mmol/l and an OGTT 2 hour increment of less than 4.6mmol/L, together with a family history of type 2 diabetes or gestational diabetes is a strong indication for GCK gene analysis.

  • Sanger sequencing of the promoter, exons 1A-10 and splice sites of the GCK gene
  • Testing for a known GCK mutation by Sanger sequencing



Sample required: Venous blood in plastic EDTA bottles (minimum 5ml adults; 3ml children; 1ml neonates) or genomic DNA (minimum of 5µg).
Reporting time: Mutation screening of a proband – 42 calendar days
  Testing for a known mutation in a relative:

Diagnostic testing for an affected relative – 42 calendar days

Predictive testing for an unaffected relative – 14 calendar days


Cost:  Sanger sequence analysis of GCK £350.00
(Please note there will be an additional 25% overhead for non-NHS tests) Testing for a known GCK mutation by Sanger sequencing £100.00
MODY Request Form – use for GCK, HNF1A, HNF4A, MIDD, and other rare types of diabetes


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