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

GCK GENE ANALYSIS IN MATURITY-ONSET DIABETES OF THE YOUNG (GCK MODY)

Pathogenic variants in the GCK gene are associated with mild, stable hyperglycaemia.  A persistent fasting blood glucose of 5.5 – 8mmol/l, HbA1c in the range of 38-60mmol/mol 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 variant by Sanger sequencing

 

Sample required:		2-4ml of EDTA blood, or DNA samples (minimum 2µg)
Reporting time:		Variant screening –42 calendar days
		Known variant tests – 42 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 variant by Sanger sequencing	£100.00

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