Genetic Haemochromatosis Screen (HFE gene)


Genetic Haemochromatosis Screen (HFE gene)

Site(s) or Laboratory offering Test/Investigation



HFE gene Mutations Most HH patients are homozygous for a point mutation at codon 282 of the gene. A small number of patients are compound heterozygotes with a mutation at codon 282 in combination with a mutation at codon 63 on the other chromosome. Mark samples “Molecular Genetics” and send immediately to Pathology Reception at NNUH.

Sample type

3ml EDTA

Turnaround times (TAT) Urgent/Routine/GP or OPD

2 weeks