Haemochromatosis: Diagnosis

(asked on 24th May 2023) - View Source

Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, what steps his Department is taking to ensure that families with a confirmed diagnosis of genetic haemochromatosis can receive cascade screening of close relatives at risk of that condition.


Answered by
Helen Whately Portrait
Helen Whately
Shadow Secretary of State for Work and Pensions
This question was answered on 8th June 2023

Genomic testing for haemochromatosis is available through the NHS Genomic Medicine Service (GMS) for patients in England. Testing is available for all eligible patients across the whole of England and any healthcare professional who suspects their patient may have haemochromatosis can refer their patient for testing via their local NHS Clinical Genomic Service (NHS CGS). Testing for the common C282Y variant for hereditary haemochromatosis is covered under clinical indication R95 of the National Genomic Test Directory and clinical indication R96 if common variants have been excluded.

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