Haemochromatosis StripAssay B

The Haemochromatosis StripAssay B determines the HFE genotype for the variants C282Y, H63D and S65C, which are associated with hereditary haemochromatosis.

Clinical background

Hereditary haemochromatosis is a genetic disorder of iron metabolism in which iron accumulates gradually in organs such as the liver, the heart and the pancreas. Untreated, it can lead to liver cirrhosis, diabetes, arthritis and cardiomyopathy, and to premature death from liver cancer or organ failure. Early diagnosis matters because the treatment, therapeutic phlebotomy, is simple and effective and allows patients to live largely without complications.

Genetic forms

Classical type 1 haemochromatosis is caused by variants in the HFE gene. Less common non-HFE forms are caused by variants in other genes involved in iron metabolism, such as transferrin receptor 2 (TFR2) and ferroportin (FPN1). This assay covers the HFE variants.

Method

Genomic DNA is released with the lysis solution and resin supplied, amplified by PCR, and hybridised to probes immobilised on a test strip. A conjugate and colour developer produce a visible colour reaction, which is read against the supplied collector sheet. The kit contains typing trays, 20 test strips and all buffers and solutions required.

• Lysis Solution (50 ml)
• GENXTRACTTM Resin (5 ml)
• Amplification Mix (yellow cap, 500 µl)
• Taq Dilution Buffer (transparent cap, 500 µl)
• DNAT (blue cap, 1.5 ml)
• Typing Trays (3)
• Teststrips (20)
• Hybridization Buffer (white cap, 25 ml)
• Wash Solution A (white cap, 80 ml)
• Conjugate Solution (25 ml)
• Wash Solution B (80 ml)
• Color Developer (25 ml)
• CollectorTM Sheet (1)