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
Information
| 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
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| 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.