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

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:		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 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

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