Participants’ Portal Results Entry Guidance – Scheme 5A

HFE Typing

Report by choosing whether the HFE mutation(s) you test for is/are present, e.g.:

Variant not present” – formerly “HH”, “CC” or “SS” for codons 63, 282 and 65 respectively
Heterozygous” – formerly “HD”, “CY” or “SC” for codons 63, 282 and 65 respectively
Homozygous” – formerly “DD”, “YY” or “CC” for codons 63, 282 and 65 respectively

Other HFE mutations, E.g. E168X can be reported in the ‘Other HFE mutations’ box (not assessed)

Technical issues/invalid results (e.g. control failures, quality issues) should be reported as  Not Tested with a reason for not testing to be reported on the final result entry page. ‘Not tested’ results will not be assessed.

For any queries with reporting contact ukneqashandi@wales.nhs.uk