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Hemochromatosis Common Mutation Analysis in HFE Gene H63D S61C and C282Y Test Cost

Original price was: 3,200 د.إ.Current price is: 2,400 د.إ.

-25%

Hemochromatosis is a genetic disorder characterized by excessive absorption of iron by the body, leading to its accumulation in various organs, potentially causing severe health issues such as liver disease, heart problems, and diabetes. The disorder is primarily linked to mutations in the HFE gene, notably the H63D, S65C, and C282Y mutations. These mutations disrupt the normal regulation of iron absorption, leading to the accumulation of iron.

The Hemochromatosis Common Mutation Analysis in HFE Gene H63D, S65C, and C282Y Test is a genetic test aimed at identifying these specific mutations within the HFE gene. Conducted by DNA Labs UAE, this test plays a crucial role in diagnosing hereditary hemochromatosis, enabling early detection and management of the condition to prevent its severe consequences.

Priced at 2400 AED, the test offers a comprehensive analysis, providing essential genetic information that can guide both patients and healthcare providers in making informed decisions about treatment and management strategies, including dietary adjustments, phlebotomy, or chelation therapy, depending on the severity of iron overload and the presence of symptoms. This test is a valuable tool in the proactive management of hereditary hemochromatosis, offering a pathway towards improved health outcomes for individuals carrying these genetic mutations.

Description

Hemochromatosis Common Mutation Analysis in HFE Gene H63D S61C and C282Y Test

Test Cost: AED 2400.0

Symptoms, Diagnosis, and Test Details

Hemochromatosis is a genetic disorder characterized by excessive absorption and accumulation of iron in the body. The most common form of hemochromatosis is caused by mutations in the HFE gene. There are three common mutations in the HFE gene that are associated with hemochromatosis: H63D, S61C, and C282Y.

H63D Mutation

This mutation involves a substitution of the amino acid histidine with aspartic acid at position 63 in the HFE protein. The H63D mutation is the most common mutation associated with hemochromatosis after the C282Y mutation. It is believed to be a milder form of the disease and is often found in combination with other mutations.

S61C Mutation

This mutation involves a substitution of the amino acid serine with cysteine at position 61 in the HFE protein. The S61C mutation is less common than the H63D mutation and is also considered to be a milder form of hemochromatosis.

C282Y Mutation

This mutation involves a substitution of the amino acid cysteine with tyrosine at position 282 in the HFE protein. The C282Y mutation is the most common and most severe mutation associated with hemochromatosis. It is responsible for the majority of cases of hereditary hemochromatosis and is typically associated with higher levels of iron accumulation.

Genetic testing for these mutations in the HFE gene can be performed to identify individuals at risk for developing hemochromatosis. It can also help in the diagnosis of the disease in individuals with symptoms or abnormal iron levels. However, it is important to note that not all individuals with these mutations will develop hemochromatosis, as other genetic and environmental factors can influence the development and severity of the disease.

Test Components and Method

Components: EDTA Vacutainer (2ml)

Price: AED 2400.0

Sample Condition: Peripheral blood

Report Delivery: 7-10 days

Method: Sanger Sequencing

Doctor and Test Department

Doctor: Gynecologist

Test Department: Genetics

Pre Test Information

Hemochromatosis Common Mutation Analysis in HFE Gene (H63D, S61C & C282Y) can be done with a doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.

Test Name	Hemochromatosis Common Mutation Analysis in HFE Gene H63D S61C and C282Y Test
Components	EDTA Vacutainer (2ml)
Price	2400.0 AED
Sample Condition	Peripheral blood
Report Delivery	7-10 days
Method	Sanger Sequencing
Test type	Genetics
Doctor	Gynecologist
Test Department:
Pre Test Information	Hemochromatosis Common Mutation Analysis in HFE Gene (H63D, S61C & C282Y) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.
Test Details	Hemochromatosis is a genetic disorder characterized by excessive absorption and accumulation of iron in the body. The most common form of hemochromatosis is caused by mutations in the HFE gene. There are three common mutations in the HFE gene that are associated with hemochromatosis: H63D, S61C, and C282Y. 1. H63D mutation: This mutation involves a substitution of the amino acid histidine with aspartic acid at position 63 in the HFE protein. The H63D mutation is the most common mutation associated with hemochromatosis after the C282Y mutation. It is believed to be a milder form of the disease and is often found in combination with other mutations. 2. S61C mutation: This mutation involves a substitution of the amino acid serine with cysteine at position 61 in the HFE protein. The S61C mutation is less common than the H63D mutation and is also considered to be a milder form of hemochromatosis. 3. C282Y mutation: This mutation involves a substitution of the amino acid cysteine with tyrosine at position 282 in the HFE protein. The C282Y mutation is the most common and most severe mutation associated with hemochromatosis. It is responsible for the majority of cases of hereditary hemochromatosis and is typically associated with higher levels of iron accumulation. Genetic testing for these mutations in the HFE gene can be performed to identify individuals at risk for developing hemochromatosis. It can also help in the diagnosis of the disease in individuals with symptoms or abnormal iron levels. However, it is important to note that not all individuals with these mutations will develop hemochromatosis, as other genetic and environmental factors can influence the development and severity of the disease.

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