Laboratory Test Reference Guide

Dedicated sample required

Dedicated aliquot may be made if dedicated sample not available. Aliquot sample for molecular testing first

If the patient has already been tested for HFE hereditary haemochromatosis, this sample will not be processed.  A copy of the previous results will be forwarded to external requestors. Internal requestors, please see CWS for previous results.

Many tests are not indicated. The most common cause of hereditary haemochromatosis is mutations in the HFE genes.  The known genes are carried by Caucasians and non-Caucasians are unlikely to test positive.

Most patients (90%) with a high ferritin will not have iron overload and testing is appropriate for investigation of hyperferritinaemia only if there is one or more of:

1. persistent hyperferritinaemia that is not explained by the more common causes such as alcohol intake, fatty liver, liver pathology or inflammation, or
2. severe hyperferritinaemia (persistently >1000 without severe inflammation), or
3. hyperferritinaemia with fasting iron saturation >0.50.

Testing is also indicated in screening of relatives a patient with confirmed haemachromatosis.

• Do not do HFE genotype testing for hyperferritinaemia without these indications.

Interpretation provided with result.

5 mL