Molecular testing for hereditary hemochromatosis

Recent molecular genetic testing methods for hereditary hemochromatosis (HH) and single nucleotide polymorphisms are summarized. Comparisons of various sample preparation and detection instrumentation are made in terms of automation, cost, high-throughput and feasibility of implementation in a clinical laboratory. Examples are given for the analysis of the two mutations associated with hereditary hemochromatosis (HH) by high-performance liquid chromatography, capillary electrophoresis and mass spectrometry based on single nucleotide extension. The trends for developing better genetic testing are discussed.