Report using the single letter amino acid code. E.g:
H and/or D for Codon 63 – HH or HD or DD
C and/or Y for Codon 282 – CC or CY or YY
S and/or C for Codon 65 – SC or SS or CC
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 ‘NT’ (Not tested). Reasons for not testing need to be reported on the final result entry page. ‘Not tested’ results will not be assessed.
For any queries with reporting contact firstname.lastname@example.org