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Detection of Hereditary hemochromatosis mutations C282Y and H63D (HFE gene)

Iron overload in humans is associated with a variety of genetic and acquired conditions. Of these, HFE hemochromatosis (HFE-HC) is by far the most frequent and most well-defined inherited cause when considering epidemiological aspects and risks for iron-related morbidity and mortality. The most common mutations are C282Y and H63D (EASL best practice guidelines, 2010).

Contacts and Location

Contact 1 Linda Piekuse
Contact 2 Linda Gabrusenoka
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Organisational Unit Rīga Stradiņš University
    Scientific Laboratory of Molecular Genetics - Latvia, Rīga

Description

Iron overload in humans is associated with a variety of genetic and acquired conditions. Of these, HFE hemochromatosis (HFE-HC) is by far the most frequent and most well-defined inherited cause when considering epidemiological aspects and risks for iron-related morbidity and mortality. The most common mutations are C282Y and H63D (EASL best practice guidelines, 2010).

Specification

Sample DNA or material for DNA isolation. Mutations C282Y and H63D in patients DNA are detected using PCR-RFLP and PAGE.

Accreditation

EMQN approved EQA sertificate for analysis of HFE related Hereditary haemochromatosis (www.emqn.org).

Delivery time

Negotiable. Depends on many factors: for example, number of samples.

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