Hemochromatosis (18 mutations)

Service Description

This test involves the use of Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) to detect hemochromatosis which is a genetic disorder characterised by the excessive accumulation of iron in the body. The test seek to detect the following HFE, TFR2 and FPN1 gene mutations: -HFE gene (12 mutations): -- V53M -- V59M -- H63D -- H63H -- S65C -- Q127H -- P160delC -- E168Q -- E168X -- W169X -- C282Y -- Q283P - TFR2 gene (4 PCR-Hybridization mutations): -- E60X -- M172K -- Y250X -- AVAQ594-597del - FPN1 gene (2 mutations): -- Ν144Η -- V162del It's important to note that not everyone with these mutations will develop hemochromatosis, and other factors such as diet and environmental exposures can also contribute to iron overload. However, if someone has a family history of hemochromatosis or is experiencing symptoms of iron overload, testing for these mutations can help with diagnosis and management of the condition.

Cancellation Policy

To cancel or schedule, please contact us 24 hours in advance

Contact Details

• 305 Neasden Lane, London NW10 1QR, UK

  02071268511

  info@ejbio.co.uk