Cholesterol & Metabolic Gene Panel (NGS)
Discover the inherited drivers behind your cholesterol and metabolic risk.
This panel is for people who want to look beyond a standard lipid profile and understand the inherited factors that shape cholesterol, triglyceride and blood pressure regulation. It is particularly relevant if you have high LDL cholesterol at a young age, a strong family history of early heart disease, very high triglycerides, unusually low cholesterol, or a personal or family history of high blood pressure or weight-related metabolic concerns. A simple blood sample is all that is required, and the results are reviewed with your doctor so that any findings can be placed in the context of your overall health.
The panel examines a focused set of genes grouped by the biological process they influence:
High LDL cholesterol (familial hypercholesterolaemia)
- LDLR, APOB (including APOB-100) and PCSK9: genes linked to familial hypercholesterolaemia, a common inherited cause of markedly raised LDL cholesterol and premature cardiovascular disease.
Lipoprotein(a)
- LPA: determines lipoprotein(a) levels, an independent and inherited risk factor for cardiovascular disease.
Low cholesterol disorders
- ANGPTL3, MTTP and SAR1B: associated with unusually low cholesterol and fat-soluble vitamin absorption problems.
High triglycerides (chylomicronaemia)
- LPL, APOA5, APOC2, GPIHBP1 and LMF1: linked to severe hypertriglyceridaemia and chylomicronaemia, which can raise the risk of pancreatitis.
HDL cholesterol metabolism
- CETP, SCARB1 and PLTP: influence HDL cholesterol levels and how cholesterol is carried in the blood.
Cholesterol transport and storage
- APOE, ABCG5, NPC1, NPC2 and SMPD1: affect how cholesterol is transported, stored and cleared, including rare storage disorders.
Blood pressure regulation
- AGTR1, HSD11B2, ENaC (SCNN1A, SCNN1B, SCNN1G), NOS2, EDN1 and AVP: genes involved in salt handling, blood vessel tone and hormonal blood pressure control.
Obesity and appetite
- FTO and MC4R: genes associated with appetite regulation and body weight, including rare monogenic obesity.
Why it matters
Standard cholesterol tests show your levels today, but they cannot tell you why they are abnormal or what your inherited risk may be. This panel can reveal a specific genetic cause for high cholesterol, high triglycerides or unusual cholesterol patterns, which helps your doctor choose the right monitoring and treatment, screen family members where appropriate, and give you a clearer picture of your long-term cardiovascular and metabolic risk.
High LDL cholesterol (familial hypercholesterolaemia)
- LDLR
- APOB (including APOB-100)
- PCSK9
Lipoprotein(a)
- LPA
Low cholesterol disorders
- ANGPTL3
- MTTP
- SAR1B
High triglycerides (chylomicronaemia)
- LPL
- APOA5
- APOC2
- GPIHBP1
- LMF1
HDL cholesterol metabolism
- CETP
- SCARB1
- PLTP
Cholesterol transport and storage
- APOE
- ABCG5
- NPC1
- NPC2
- SMPD1
Blood pressure regulation
- AGTR1
- HSD11B2
- ENaC (SCNN1A, SCNN1B, SCNN1G)
- NOS2
- EDN1
- AVP
Obesity and appetite
- FTO
- MC4R
No special preparation required.
For blood tests, we recommend drinking plenty of water beforehand to ensure smooth sample collection. If you are taking any regular medication, continue to do so unless advised otherwise by your doctor.
Important Clinical Information:
This test is a screening tool to monitor and support your overall health. It does not replace your GP or consultant.
Always discuss your test results, especially any abnormal results, with your GP, who can interpret them in the context of your medical history and overall health.