Genetic Familial Hypercholesterolaemia (FH)
Genetic Familial Hypercholesterolaemia (FH) Blood Test detects genetic cholesterol issues.
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Genetic Familial Hypercholesterolaemia (FH)
Genetic Familial Hypercholesterolaemia (FH) Blood Test
The Genetic Familial Hypercholesterolaemia (FH) Blood Test is a crucial diagnostic tool for identifying individuals with FH, a genetic disorder that results in high cholesterol levels. This test is essential in preventing premature heart disease and managing cholesterol levels effectively.
What does the test look for?
The test primarily looks for mutations in three genes: LDLR, PCSK9, and APOB. These mutations are commonly associated with FH. However, the specific set of biomarkers may vary slightly depending on the provider.
How can this test help you?
The results of the Hypercholesterolaemia Blood Test can guide treatment plans and lifestyle changes. Early detection of FH can significantly reduce the risk of premature heart disease and other complications.
Key takeways
- The Genetic Familial Hypercholesterolaemia (FH) Blood Test is a diagnostic tool for identifying individuals with FH, a genetic disorder leading to high cholesterol levels.
- The test looks for mutations in the LDLR, PCSK9, and APOB genes.
- The results can guide treatment plans and lifestyle changes, reducing the risk of premature heart disease.
- The cost of the test in the UK typically ranges from £150 to £350.
- Private health insurance may cover the cost, but it's important to check with your provider.
- A doctor's referral is not necessary, and self-referral is possible through Odycy's platform.
- Genetic counseling is recommended due to the genetic nature of the test.
Common Symptoms and Conditions
Frequently Asked Questions
What is Familial Hypercholesterolaemia?
Familial Hypercholesterolaemia (FH) is a genetic disorder that results in high cholesterol levels, increasing the risk of premature heart disease. It is diagnosed through a Genetic FH Blood Test that looks for mutations in specific genes.
What does the Genetic FH Blood Test look for?
The Genetic FH Blood Test looks for mutations in three genes: LDLR, PCSK9, and APOB. These mutations are commonly associated with Familial Hypercholesterolaemia.
How can the Genetic FH Blood Test help me?
The results of the Genetic FH Blood Test can guide treatment plans and lifestyle changes. Early detection of FH can significantly reduce the risk of premature heart disease and other complications.
How much does the Genetic FH Blood Test cost?
The cost of the Genetic FH Blood Test in the UK typically ranges from £150 to £350, inclusive of appointment fees.
Is a doctor's referral necessary for the Genetic FH Blood Test?
No, a doctor's referral is not necessary for this test. A self-referral allows you to book a private appointment directly with the provider.
Further Information on the Service
Conditions & Symptoms
Individuals with a family history of high cholesterol or premature heart disease may consider this test. Symptoms of FH include high LDL cholesterol levels, fatty skin deposits, and cholesterol deposits around the cornea.
What to expect on the day of your test
The appointment typically lasts about an hour. A small blood sample will be taken for genetic screening analysis. There is no need to fast for this test.
Test Analysis
The analysis involves sequencing the genes associated with FH. If a mutation is found, it indicates a positive diagnosis for FH. The results are usually available within 2 to 4 weeks.
Additional Resources
For more information about FH, visit Heart UK or British Heart Foundation.
References
- Quest Diagnostics: Familial Hypercholesterolemia
- ARUP Lab Test Directory: Familial Hypercholesterolemia Panel, Sequencing
- HNL Lab Medicine: Familial Hypercholesterolemia NGS panel
- Royal Brompton and Harefield NHS Trust: Information regarding your Genetic Screening appointment for FH
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Genetic Familial Hypercholesterolaemia (FH)
Genetic Familial Hypercholesterolaemia (FH)
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