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HFE Gene Test
The HFE gene test is a molecular diagnostic tool used to identify genetic variants linked to hereditary hemochromatosis (HH), a condition marked by excessive iron absorption and tissue damage. This test focuses on the HFE gene, which is vital for regulating iron levels by interacting with proteins on cell surfaces, particularly in liver and intestinal cells. Mutations in the HFE gene, such as C282Y and H63D, can disrupt iron regulation, leading to iron overload. The test employs droplet digital polymerase chain reaction (ddPCR) to detect these mutations in DNA samples from blood or buccal swabs. While the test is crucial for diagnosing HH, it has limitations, as it only detects specific variants and may not identify all mutations associated with the condition. Therefore, results should be interpreted alongside clinical findings and family history. The test aids in diagnosing HH and guiding treatment, such as therapeutic phlebotomy, to manage iron levels.
The HFE gene test is a molecular diagnostic tool used to identify genetic variants linked to hereditary hemochromatosis (HH), a condition marked by excessive iron absorption and tissue damage. This test focuses on the HFE gene, which is vital for regulating iron levels by interacting with proteins on cell surfaces, particularly in liver and intestinal cells. Mutations in the HFE gene, such as C282Y and H63D, can disrupt iron regulation, leading to iron overload. The test employs droplet digital polymerase chain reaction (ddPCR) to detect these mutations in DNA samples from blood or buccal swabs. While the test is crucial for diagnosing HH, it has limitations, as it only detects specific variants and may not identify all mutations associated with the condition. Therefore, results should be interpreted alongside clinical findings and family history. The test aids in diagnosing HH and guiding treatment, such as therapeutic phlebotomy, to manage iron levels.
The lowest price from the last 30 days: £489
Awaiting result:
4 days
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Blood
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The HFE gene test is essential for diagnosing hereditary hemochromatosis (HH), focusing on genetic variants like C282Y and H63D. Key objectives include:
- Identify Genetic Variants: Detect C282Y, H63D, and S65C mutations linked to HH.
- Assess Iron Regulation: Evaluate disruptions in iron absorption due to HFE mutations.
- Guide Clinical Management: Aid in diagnosis and treatment planning for symptomatic individuals.
- Support Predictive Testing: Offer insights for those with a family history of HH.
- Ensure Comprehensive Evaluation: Interpret results alongside clinical data for accurate diagnosis.
The HFE gene test is essential for diagnosing hereditary hemochromatosis (HH), a condition marked by excessive iron absorption. Testing is crucial for:
- Individuals with Symptoms: Those showing signs of iron overload, such as liver damage or diabetes.
- Family History: People with relatives diagnosed with HH should consider testing.
- Clinical Indicators: Elevated serum ferritin or transferrin-iron saturation levels warrant testing.
The test identifies C282Y and H63D mutations, aiding in diagnosis and management. However, results must be interpreted alongside clinical data for accuracy.
Understanding test results for the HFE gene test is crucial for diagnosing hereditary hemochromatosis (HH). Here's a brief guide:
- Positive Result: Indicates presence of C282Y or H63D mutations, suggesting a higher risk for HH. Clinical symptoms and family history should be considered.
- Negative Result: Does not rule out HH, as other rare variants may exist.
- Heterozygous Result: One copy of a mutation; usually no symptoms but may affect serum iron levels.
- Considerations: Results should be interpreted alongside clinical evaluations and other tests for comprehensive diagnosis.
The lowest price from the last 30 days: £489
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