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Genetic Haemochromotosis Test
170.00
This test detects genetic variants linked to hereditary haemochromatosis, a condition causing excess iron absorption. Early detection helps prevent organ damage through timely monitoring and treatment.
Turnaround time
4-6 weeks
Biomarkers count
3
Same-Day Appointments
UKAS Accredited Labs
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Under 18? Patients under 18 can only be seen at GB Medlabs and Clinilabs, Monday to Friday only.
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Details about Genetic Haemochromotosis Test
Genetic Haemochromatosis Test | London Blood Tests
At London Blood Tests, we provide specialized diagnostic services to help you understand and manage your health conditions. Our Genetic Haemochromatosis Test is designed to identify genetic markers associated with haemochromatosis, a condition characterized by excessive iron accumulation in the body. If you have unexplained high iron levels, this test can help determine if you are genetically predisposed to haemochromatosis.
What is it?
Our Genetic Haemochromatosis Test involves genotyping (by RT-PCR) of three SNPs within the HFE gene: C282Y, H63D, and S65C. These variants are commonly associated with an increased risk of developing haemochromatosis.
C282Y, H63D, and S65C are specific mutations in the HFE gene, which is associated with hereditary hemochromatosis, a genetic disorder that causes the body to absorb too much iron from the diet, leading to iron overload.
1. C282Y: This is the most common mutation associated with hereditary hemochromatosis. Individuals who are homozygous for the C282Y mutation (having two copies of the mutation) are at a high risk of developing iron overload. This mutation changes the amino acid cysteine to tyrosine at position 282 of the HFE protein, which disrupts the protein's normal function in regulating iron absorption.
2. H63D: This is another mutation in the HFE gene, where the amino acid histidine is replaced by aspartic acid at position 63. It is less strongly associated with hereditary hemochromatosis than C282Y. Individuals who are compound heterozygotes (having one C282Y and one H63D mutation) have a moderate risk of developing iron overload.
3. S65C: This mutation is less common and generally considered to have a milder effect compared to C282Y and H63D. It involves the substitution of serine for cysteine at position 65. When present along with another mutation like C282Y, it can slightly increase the risk of iron overload, but on its own, it typically poses a lower risk.
Testing for these mutations is often used to diagnose hereditary hemochromatosis or to assess the risk of developing iron overload.
Benefits
• Accurate Diagnosis: Identify your genetic risk for haemochromatosis.
• Proactive Health Management: Take informed steps to manage iron levels and prevent complications.
• Quick Results: Receive your results within 7 days, allowing for timely medical advice and action.
The Process
• Book an Appointment: Schedule your test online or via phone.
• Sample Collection: Visit our clinic for a blood sample collection or arrange a home visit for an additional £60.
• Laboratory Analysis: Our expert team analyzes your sample for the HFE C282Y, H63D, and S65C markers.
• Receive Results: Get your results within 7 days, complete with a detailed report and recommendations.
Why Choose London Blood Tests?
• Experienced Professionals: Our team of specialists ensures precise and reliable testing.
• Convenient Locations: Easily accessible clinics across London.
• Comprehensive Support: From booking to results, we provide support at every step.
Ideal For
Individuals of North European ancestry with unexplained raised serum ferritin and random Tsat levels (>300 µg/l and >50% in males; >200 µg/l and >40% in females).
Those with a family history of haemochromatosis.
Anyone experiencing symptoms associated with iron overload.
How to Get Started
1. Schedule Your Test: Book online or call us to arrange your test.
2. Choose Your Collection Method: Decide between a clinic visit or a home visit for an additional fee.
3. Prepare for the Test: Follow any pre-test instructions provided.
4. Get Tested: Visit the clinic or have a professional come to your home to collect your sample.
5. Receive Your Results: We will send your results via email within 7 days.
Understanding your genetic risk for haemochromatosis can significantly enhance your quality of life by allowing you to manage iron levels effectively. At London Blood Tests, we offer a quick, reliable, and convenient way to diagnose genetic predispositions to haemochromatosis. Book your test today and take the first step towards better health management.
How It Works
Simple steps to get your results
1
Book Online
Choose your test online and book in seconds. Select your preferred clinic location or home visit option.
2
Visit or Test at Home
Attend one of our UK or London clinics, arrange a home nurse visit, or use a finger-prick kit where available.
3
Get Your Results
Your sample is analysed by accredited UK laboratories, with secure results delivered directly to you.
Take control of your health with London Blood Tests
WhatsApp UsHow to Prepare for Your Test
Follow these guidelines for accurate results
Sample Timing
Where possible, attend your blood test between 7am and 12pm. Please wait until any short-term illness or infection has fully resolved before testing. Avoid intense exercise for 24–48 hours beforehand, as this can affect certain markers.
Fasting & Hydration
Fasting is not always required, but some tests may recommend it. If fasting is advised, avoid food for 8–12 hours before your appointment and drink water only. Stay well hydrated, as this helps with sample collection and accuracy.
Medications & Supplements
Continue prescribed medications unless advised otherwise by your clinician. Avoid vitamin, mineral, or biotin supplements for at least 24–48 hours before your test, as these can interfere with results. If you are unsure about any medication or supplement, please let us know before your appointment.
Hormones & Menstrual Cycle
For hormone-related tests, timing within your menstrual cycle may be important. If relevant, follow any specific guidance provided on your test page.
If you have any questions or special circumstances, our team is happy to advise before your appointment.
Frequently Asked Questions
It identifies genetic risk, not current iron overload.
It complements iron tests by identifying inherited cause.
No fasting is required.
Yes. Your genetics do not change.
Yes, though symptoms often appear later than in men.
Yes, especially first-degree relatives.
Yes. At-home phlebotomy is available across the UK.
Testing is performed in UKAS-accredited laboratories using validated genetic methods.
Results are usually available within 10–14 business days.
A GP consultation is optional, but recommended if a mutation is detected.
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