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Hemochromatosis (main mutations H63D, C282Y, S65C)

Gastroenterology 06.004

Hemochromatosis (main mutations H63D, C282Y, S65C)

HFE1
Signs/symptoms: HFE-associated
Complications: Liver Cirrhosis
Early diagnosis/treatment: Yes
Iron storage disease. The clinical features of hemochromatosis include cirrhosis of the liver, diabetes, hypermelanotic pigmentation of the skin, and heart failure.

Material required:
Blood tubes: EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush: Yes
Chromosomal localization: 6p21.3 OMIM number: 235200

Hereditary hemochromatosis protein (main mutations H63D, C282Y, S65C)

HFE

Gene regions tested:
Gene regions:
Amino acid positions: H63D, C282Y, S65C
Nucleotide positions:
Test methods: Restriction Fragment Length

Prices:

Switzerland:
8820.00 8811.01 8818.00
  TP REVAL: 370 TP Value: 0.9 CHF 333.00
Other europe: EUR 230.00
Other regions: USD call

References:
Pietrangelo A. Hereditary Hemochromatosis - A New Look at an Old Disease. N Engl J Med 2004;350:2383-2397.

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