Originale
You first measure the Transferrin Saturation fasting two times in a row with some weeks in between. If both tests show Transferrin Saturation above 45 % there is a strong indication. The doctor may then look at the Serum Ferritin value and if this is over 200/300. A gene test is then the next natural step. Normally this is not a full sequencing but just a check towards the most known mutations one one of the genes. The most common gene involved is HFE and the three most common mutations are C282Y, H63D, S65C all listed with their short names. A negative gene check like that does not conclude that there is no hereditary haemochromatosis. There are at least 110 known mutations on at least 6 genes involved in the risk of taking up too much iron from the diet. Many of the mutations are however rare or even only found in certain families.