PARLIAMENTARY WRITTEN QUESTION
Haemochromatosis: Diagnosis (26 January 2022)

Genetic testing for haemochromatosis is available through the NHS Genomic Medicine Service for patients in England who show unexplained iron overload suggestive of hereditary haemochromatosis. This testing is outlined in the National Genomic Test Directory and is delivered via the national genomic testing network of NHS Genomic Laboratory Hubs.

The UK Rare Diseases Framework outlines four priorities to improve the lives of those living with rare diseases, such as some forms of genetic haemochromatosis. Further details regarding plans to improve diagnosis of rare diseases will be provided in action plans, which will be published by each of the four United Kingdom nations within two years of publication of the Framework. England’s action plan will be published in February 2022.