Familial Hypercholesterolaemia (LDLR Gene) – Swift Blood Tests

£115.00

4.9/5 from 131+ verified Google reviews

  • Results: ~4-6 weeks
  • Doctor’s report included
  • Convenient home or clinic sampling
  • Free delivery & returns

Biomarkers

The FH test analyses mutations in the LDLR gene (and sometimes APOB, PCSK9) that impair cholesterol clearance, leading to high LDL levels.

Sample collection: A small blood sample is taken (usually EDTA tube) by a finger-prick kit at home or in one of our UK clinics. Our kit includes everything needed; simply return the sample in the pre-paid envelope. Results include a personalised doctor’s interpretation.

Booking details

Age restriction: Adults 18+ only (guardian consent required for minors; testing from age 2 in families).

Overview

The familial hypercholesterolaemia (LDLR gene) test is a genetic screening to confirm inherited high cholesterol due to mutations affecting liver cholesterol processing. It identifies variants causing elevated LDL, increasing heart disease risk. Your doctor may order this if you have very high cholesterol or family history of early heart issues. The test enables early treatment. Swift Blood Tests processes samples rapidly, with results and a doctor’s report typically within 4-6 weeks.

Key Test Components

LDLR Gene Mutations

primary cause of FH, affecting cholesterol receptor function.

APOB/PCSK9 Variants

additional genes sometimes tested for comprehensive assessment.

Cholesterol Risk Profile

evaluates inheritance and cardiovascular risk.

Sample Requirements

A venous blood sample is required (collected in a purple-top EDTA tube). No special patient preparation is needed. Drink water and eat normally. Send samples via the next-day laboratory service.

Clinical Uses

Confirm diagnosis

In those with high LDL or clinical signs like xanthomas.

Cascade screening

For relatives of diagnosed individuals.

Guide treatment

Early statins or lifestyle changes to prevent heart disease.

Monitor families

Identifying 1 in 250 at-risk people.

Why You Might Need This Test

You may be advised to take an FH test if you have any of the following signs or risk factors: - High cholesterol: Very elevated LDL on lipid tests. - Family history: Early heart disease or strokes in relatives. - Physical signs: Tendon xanthomas or corneal arcus. - Chronic conditions: Monitoring for inherited lipid disorders. For example, a patient with high cholesterol despite diet may have LDLR mutations. Similarly, family screening might identify risks. Your doctor will interpret alongside history and may recommend statins.

Can’t Find Your Test?

If you can’t find the test you’re looking for, simply give us a call and our support team will guide you to the right option. We’re here to ensure you get the correct test quickly and confidently.

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FAQs

Frequently Asked Questions

What is a Familial Hypercholesterolaemia (LDLR Gene) Test?

 It analyses DNA for mutations in LDLR and related genes causing inherited high cholesterol.

 For high cholesterol, family history of heart disease, or clinical signs. It confirms genetic cause.

 No special preparation is usually required. You can eat and drink normally.

 A small blood sample is taken from a vein in your arm using a needle. It is quick and routine.

 Risks are very low, like slight bruising.

 Results are typically available within 4-6 weeks. Swift Blood Tests provides a detailed report.

 Yes, with our home kit or clinic appointment.

 Genetic results are not affected by diet; discuss family history.

 Pathogenic mutations confirm FH; requires treatment to reduce heart risk.

 Intended for adults, but available from age 2 in families. Consult specialists for children.

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