Familial hypercholesterolaemia genetic blood test in Chiswick

What the test measures

Familial hypercholesterolaemia, often called FH, is an inherited condition in which the liver cannot clear LDL cholesterol from the blood efficiently. As a result, LDL levels are high from childhood, which raises the risk of heart disease at a younger age if it is not treated. FH is one of the more common inherited conditions, yet many people who have it have not been diagnosed.

This test analyses genes known to cause FH, such as LDLR, APOB and PCSK9, to look for a disease-causing variant. Finding one confirms a genetic cause for high cholesterol and means close relatives can be offered testing too. NICE recommends that people with suspected FH are assessed and, where appropriate, offered genetic testing and cascade testing of relatives.

The price includes your sample taken at our Chiswick clinic, analysis at the Randox accredited laboratory, a review of your result with an Omnia practitioner, and a GP feedback report on request.

Who it is for

• You have a very high LDL or total cholesterol result, especially at a younger age.
• A parent, brother or sister had a heart attack or angina before 60.
• A relative has been diagnosed with familial hypercholesterolaemia.
• You have yellowish cholesterol deposits on your tendons or around your eyes.
• Your GP or practitioner has suggested genetic testing for FH.

Understanding your result

Your report states whether a disease-causing variant was found and in which gene. A positive result confirms a genetic diagnosis of FH, which usually leads to referral to a lipid clinic, treatment to lower cholesterol and an offer of testing for close relatives. Some results show a variant of uncertain significance, which means its effect is not yet known.

A negative result does not remove all risk, because not every cause of FH can be detected, and very high cholesterol still needs treatment whatever the genetic result. Genetic results are best discussed with your practitioner and a genetic counsellor or lipid specialist. Your practitioner treats anything unusual as a reason to discuss further, not as a diagnosis.

Preparing for your test

No fasting is needed for the genetic test and it can be taken at any time of day, because your genes are the same in every sample. Keep taking any cholesterol medicines as normal. Tell us if you have had a bone marrow transplant or recent blood transfusion, and bring any previous cholesterol results so your practitioner can review them alongside your genetic report.

To check your current levels, our cholesterol blood tests include LDL and HDL, and Advanced GP3 adds apolipoproteins and lipoprotein (a). You are welcome to compare every blood test and price in Chiswick before booking.

Questions

How much is a familial hypercholesterolaemia genetic test in Chiswick?

The Familial Hypercholesterolaemia Genetic Risk test costs £745 at Omnia Lifestyle in Chiswick. This includes your blood sample, genetic analysis at the Randox accredited laboratory, a practitioner review and a GP feedback report on request.

What does a positive result mean for my family?

FH is passed on in families, and each child of a parent with FH has a one in two chance of inheriting it. Close relatives can then be offered testing, which helps find and treat others early.

If my result is negative, is my cholesterol not a concern?

No. A negative result means no known FH variant was found, but high cholesterol still raises cardiovascular risk and should be managed with your GP.

Do I need to repeat this test?

No. Your genes do not change, so this is a one-off test. Your cholesterol levels, however, should be monitored regularly.