HEMOCHROMATOSIS · HFE(C282Y, H63D) · HOT SPOT

New Test in NOÛS Catalog

Test Code: 9668

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Hot Spot
Set Up Days:	Daily
Delivery term:	22 days
Information:
Haemochromatosis is characterised by a high and inappropriate absorption of iron in the gastrointestinal mucosa, resulting in excessive iron storage, particularly in the liver, skin, pancreas, heart, joints and testicles. The initial symptoms are abdominal pain, weakness, lethargy and weight loss. Hereditary haemochromatosis (HHC) can be detected by DNA analysis. Approximately 5% of all the haemochromatosis alleles present a mutation (C282Y) and two polymorphisms (H63D, S65C). The HHC test can be conducted on persons with and without family histories of the disorder. Detection and early diagnosis is important in order to treat the disease and prevent multi-organ damage due to the accumulation of iron. The analysis of DNA mutations is the only reliable method for diagnosis the HHC carriers. Screening of the mutations C282Y, H63D and S65C of the HFE gene is available in our laboratory. OTHER TESTS IN CATALOGUE 1818

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