Mutation analysis in suspected cases of dyshormonogenesis

If thyroid imaging suspects that the cause of the hypothyroidism might be due to an enzyme defect in the function of the thyroid gland, there is a mutation analysis service available in Scotland. This is based in the genetics laboratories of Queen Elizabeth University Hospital, Glasgow.

The service offers analysis for the three most common mutations responsible for dyshormonogenesis in Scotland, namely mutations in thyroperoxidase (TPO), thyroglobulin (Tg) and the TSH receptor (TSHR) genes.

For genetic testing, a sample of blood in an EDTA bottle is required. The lab requires at least 1ml volume.

Samples should be obtained from the infant, and also from both parents. This can be performed at a subsequent follow up visit as it may be difficult to obtain sufficient blood samples at the initial diagnostic visit.

The service is managed by Therese Bradley who can be contacted on therese.bradley@ggc.scot.nhs.uk or by telephone 0141 354 9330. If unavailable the duty scientist can be contacted on geneticlabs@ggc.scot.nhs.uk