Hemochromatosis (main mutations H63D, C282Y)

Hematology

08.003

Hemochromatosis (main mutations H63D, C282Y)

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)

HFE

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

Prices:

Switzerland:

8820.00

8811.01

8818.00

8810.11

	TP REVAL:	270	TP Value:	0.9	CHF	243.00
Other europe:	EUR					180.00
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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Hemochromatosis (main mutations H63D, C282Y)

Hemochromatosis (main mutations H63D, C282Y)

HFE1

Material required:

Hereditary hemochromatosis protein (main mutations H63D, C282Y)

HFE

Gene regions tested:

Prices:

Switzerland:

References:

Browse Gene Tests

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