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