Hemochromatosis - determination of mutations C282Y, H63D, S65C in the HFE gene
Material: Blood
Price of the study: 500 PLN
Waiting time: result after 5 working days
Booking:
Price of the study: 500 PLN
Waiting time: result after 5 working days
Booking:
- Advance appointment booking required by calling 81 532 37 11.
Preparation for the study
General
- The test is taken at a dedicated Intake Point.
- The patient does not need to be fasting.About 30 minutes before the test, it is advisable to drink a glass of water or bitter(unsweetened) tea.
Important
Samples brought from outside are not accepted for testing.
Description
"Hemochromatosis - determination of C282Y, H63D, S65C mutations in the HFE gene
Hemochromatosis is an inborn disease manifested by a disorder of iron metabolism. It is an autosomal recessively inherited disease, and occurs in about 1:300-350 people in the Northern European population. As a result of excessive absorption of iron from the gastrointestinal tract, the body becomes overloaded with iron, with consequent damage to the heart (cardiomyopathy), liver (cirrhosis, increased risk of developing primary hepatocellular carcinoma), pancreas and joints. The first symptoms of the disease are weakness and chronic fatigue, as well as joint and abdominal pain. Subsequently, liver failure develops, diabetes mellitus, cardiac arrhythmias appear and a gradually progressive gray-brown coloration of the skin. The most common cause of hemochromatosis is two mutations in the HFE gene : C282Y and H63D. Most patients (64-95% of cases) have a homozygous C282Y mutation. Less frequently, homozygous or heterozygous mutations of C282Y, H63D and S65C are observed."
Hemochromatosis is an inborn disease manifested by a disorder of iron metabolism. It is an autosomal recessively inherited disease, and occurs in about 1:300-350 people in the Northern European population. As a result of excessive absorption of iron from the gastrointestinal tract, the body becomes overloaded with iron, with consequent damage to the heart (cardiomyopathy), liver (cirrhosis, increased risk of developing primary hepatocellular carcinoma), pancreas and joints. The first symptoms of the disease are weakness and chronic fatigue, as well as joint and abdominal pain. Subsequently, liver failure develops, diabetes mellitus, cardiac arrhythmias appear and a gradually progressive gray-brown coloration of the skin. The most common cause of hemochromatosis is two mutations in the HFE gene : C282Y and H63D. Most patients (64-95% of cases) have a homozygous C282Y mutation. Less frequently, homozygous or heterozygous mutations of C282Y, H63D and S65C are observed."
Development and preparation of material (applies to contractors only)
1082
