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Genetic testing for hereditary haemochromatosis is likely to be a significant workload for diagnostic laboratories. The C282Y and H63D mutations in the HFE gene associated with hereditary haemochromatosis have previously been detected using a number of methods including alterations in the restriction digest pattern of polymerase chain reaction (PCR) amplified products. An amplification refractory mutation system (ARMS) has been developed that will simultaneously detect both hereditary haemochromatosis mutations. Comparison of the results obtained from the analysis of 46 samples referred for hereditary haemochromatosis testing showed no discrepancies between ARMS and restriction enzyme digestion. Furthermore, consistent results were obtained by ARMS from both blood and buccal mouthwash samples. The ARMS test is quicker and less expensive in terms of consumables and scientist time than restriction enzyme analysis, and is therefore suited to the routine diagnostic analysis of hereditary haemochromatosis.

Original publication

DOI

10.1136/jcp.51.1.73

Type

Journal article

Journal

J Clin Pathol

Publication Date

01/1998

Volume

51

Pages

73 - 74

Keywords

Cheek, Chromosomes, Human, Pair 6, DNA Mutational Analysis, Genes, MHC Class I, Hemochromatosis, Humans, Point Mutation, Polymerase Chain Reaction, Restriction Mapping, Therapeutic Irrigation