Hereditary Hemochromatosis
Five out of a thousand people have an increased risk of developing hereditary hemochromatosis (HH).
The disease concerns a disruption in iron absorption due to genetic changes, and too much iron is absorbed from food. Since humans do not have an active excretion mechanism for iron, excess iron is stored in organs such as the liver, heart and pancreas. This leads to impairment in the affected organs and severe organ damage results. To prevent this, early diagnosis of hereditary hemochromatosis is of crucial importance.
To diagnose or rule out hereditary hemochromatosis, persons with abnormal serum iron markers and unexplained liver or heart disease, for example, should undergo genetic testing. If the disease is present, the goal of treatment is to remove the excess iron from the body. One simple therapeutic measure involves regular bloodletting.
In 1996 the HFE gene that is closely associated with HH was discovered. Various mutations in this gene can lead to iron overload. The most frequent is the C282Y mutation; more than 80% of all HH patients are homozygous for C282Y. In addition, an increased risk of disease can be demonstrated with the appearance of the compound heterozygote C282Y/H63D.
Products for your diagnostics of hereditary hemochromatosis
Our test systems for the diagnostics of hereditary hemochromatosis detect genetic risk factors - fast and reliable.
It is your choice: two different technologies provide your individual result.
The test system GenoType HH VER 2.0 is based on the reliable DNA•STRIP technology.
The test systems FluoroType® HH C282Y VER 1.0 and FluoroType® HH H63D VER 1.0 rely on the innovative FluoroType® technology.
Product range
Your fluorescence-based test system for the definite detection of the mutation C282Y in the HFE gene.
Your benefits with FluoroType® HH C282Y VER 1.0
- User-friendly: From amplification to detection, all steps are performed in the FluoroCycler®. Analysis and interpretation of results are then performed using a test-specific software. Your diagnostics therefore become even simpler and more reliable.
- Reliable Result: The test specific evaluation software guaranteed objective and valid result interpretation.
- Cost-effective: No costly equipment is needed to perform the test, therefore making it appealing to laboratories of all size.
At a glance
Molecular genetic fluorescence-based test system for the definite detection of the C282Y mutation in the HFE gene
Starting material:
EDTA/Citrate blood
DNA Isolation:
GXT Blood Extraction Kit VER 2.0 (with GenoXtract®)
Instrument for Amplification and Detection:
FluoroCycler® 12
FluoroCycler® XT
Technology:
FluoroType® technology
Downloads:
Your fluorescence-based test system for the definite detection of the mutation H63D in the HFE gene.
Your benefits with FluoroType® HH H63D VER 1.0
- Reliable Result: The test specific evaluation software guaranteed objective and valid result interpretation.
- Innovative: FluoroType® HH H63D VER 1.0 is based on an innovative fluorescence-based technology – this enables rapid and reliable results.
- User-friendly: From amplification to detection, all steps are performed in the FluoroCycler®. Analysis and interpretation of results are then performed using a test-specific software. Your diagnostics therefore become even simpler and more reliable.
At a glance
Molecular genetic fluorescence-based test system for the definite detection of the H63D mutation in the HFE gene
Starting material:
EDTA/Citrate blood
DNA Isolation:
GXT Blood Extraction Kit VER 2.0 (with GenoXtract®)
Instrument for Amplification and Detection:
FluoroCycler® 12
Technology:
Fluorotype® technology
Downloads:
Your test system for the definite detection of the mutations C282Y, H63D, S65C and E168X in the HFE gene associated with hereditary hemochromatosis.
Our GenoType HH VER 1.0 test system allows you to have a definite and rapid diagnosis of hereditary haemochromatosis by the detection of these important mutations.
Your benefits with GenoType HH VER 2.0
- Unambiguous diagnosis: With the detection of certain genotypes, the suspicion of the presence of hereditary haemochromatosis can be confirmed.
- More information: Along with the two most common mutations (C282Y and H63D), rare genotypes such as S65C and E168X are also detected. This allows a comprehensive diagnosis of the disease.
- Definite result: If the test is not processed under optimal conditions, this will be indicated by an internal control.
At a glance
Molecular genetic assay for analysis of the HFE gene mutations C282Y, H65D, S65C and E168X
Starting material:
EDTA/Citrate blood
DNA Isolation:
GENO•CARD VER 1.0 or
GXT Blood Extraction Kit VER 2.0 (with GenoXtract®)
Technology:
DNA•STRIP technology
Downloads:
Please contact your local representative for availability in your country.
Not for sale in the USA.
Legal Manufacturer is Hain Lifescience GmbH – A Bruker Company
