Hypercholesterolemia Gene Panel by NGS, EDTA Blood**

What Is the Hypercholesterolemia Gene Panel?

The Hypercholesterolemia Gene Panel is a genetic blood test used to diagnose inherited conditions that cause high cholesterol levels, particularly familial hypercholesterolemia. These conditions affect how your body processes and clears cholesterol from the blood, increasing the risk of early heart disease.

This test analyses multiple genes involved in cholesterol metabolism and transport. It helps your doctor confirm whether high cholesterol is genetic rather than lifestyle related.

What Does the Hypercholesterolemia Gene Panel Measure?

This test evaluates genes linked to lipid metabolism and cholesterol regulation:

• Detection of pathogenic genetic variants causing inherited hypercholesterolemia
• Identification of familial hypercholesterolemia and related lipid disorders
• Differentiation between genetic and acquired causes of high cholesterol
• Support for cardiovascular risk assessment and long term management

Hypercholesterolemia Gene Panel: Who Needs It and Why It’s Done

What Symptoms May Call for a Hypercholesterolemia Gene Panel?

Many people with inherited high cholesterol may not have symptoms. However, testing may be advised if you have:

• Persistently high LDL cholesterol levels
• Early onset heart disease or stroke
• Fatty deposits on the skin or around the eyes
• Tendon xanthomas
• Strong family history of high cholesterol or heart disease

Who Should Get a Hypercholesterolemia Gene Panel?

This test is recommended for:

• Individuals with very high cholesterol from a young age
• People with a family history of familial hypercholesterolemia
• Patients with early cardiovascular disease without clear risk factors
• First degree relatives of individuals with known genetic hypercholesterolemia
• Families seeking genetic counselling and preventive planning

Why Is the Hypercholesterolemia Gene Panel Done?

The test helps confirm a genetic cause of high cholesterol, allowing your doctor to tailor treatment and recommend family screening.

Importance of the Hypercholesterolemia Gene Panel

Identifying inherited hypercholesterolemia enables early and targeted treatment to reduce the risk of heart attack and stroke. Genetic confirmation supports timely intervention, guides medication choices, and helps protect family members through early diagnosis and monitoring.

Hypercholesterolemia Gene Panel Booking & Reports – Metropolis Healthcare

How to Book the Hypercholesterolemia Gene Panel and Get Your Reports?

1. Simple Online Booking
   Booking can be done through the Metropolis Healthcare App or website. Select the Hypercholesterolemia Gene Panel, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection.
2. Safe Home Sample Collection
   Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols.
3. Sample Tracking Updates
   You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform.
4. Accurate Laboratory Testing
   Your sample is processed at NABL and CAP accredited laboratories using advanced next generation sequencing technology.
5. Quick and Easy Reports
   Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.

Is Home Sample Collection for Hypercholesterolemia Gene Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Hypercholesterolemia Gene Panel. This service saves time, reduces travel, and ensures professional sample handling while maintaining strict quality standards.

In How Much Time Will I Get the Hypercholesterolemia Gene Panel Report?

Reports are usually available in around 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.

Where Can I See or Get Hypercholesterolemia Gene Panel Results?

You can view and download your reports through the Metropolis Healthcare website or app. Reports are also sent via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.

Interpreting Hypercholesterolemia Gene Panel Results

What Your Hypercholesterolemia Gene Panel Results May Indicate

Understanding Abnormal Hypercholesterolemia Gene Panel Results by Gene Group

How Should You Prepare for a Hypercholesterolemia Gene Panel?

This test requires minimal preparation from your side:

• No fasting required: You can eat and drink normally
• Continue medications: Do not stop prescribed medicines unless advised by your doctor
• Inform your doctor: Share details of cholesterol reports and family history
• Complete forms: Ensure the test requisition form and genetic history details are provided
• Normal hydration: Drink water as you usually would before sample collection

How Is a Hypercholesterolemia Gene Panel Done? (Step-by-Step Procedure)

The test is performed using a standard blood collection process:

• Preparation: A tourniquet is tied around your arm to make veins more visible
• Cleaning: The puncture site is cleaned with an antiseptic
• Sample Collection: About 3 to 5 ml of blood is drawn into an EDTA vacutainer using a sterile needle
• Completion: The needle is removed, and a bandage is applied
• Processing: The sample is analysed using next generation sequencing to identify genetic variants

Conditions That May Affect Hypercholesterolemia Gene Panel Accuracy

Certain patient-related factors may influence result interpretation:

• Incomplete family or clinical history
• Mosaic genetic variants present at low levels
• Genetic variants outside the tested gene panel
• Coexisting metabolic or endocrine disorders affecting lipid levels

Diseases That the Hypercholesterolemia Gene Panel Can Help Detect

• Familial hypercholesterolemia
• Inherited lipid metabolism disorders
• Genetic dyslipidaemias associated with cardiovascular risk

References

1. Nordestgaard B.G., Chapman M.J., Humphries S.E., et al. (2013). Familial hypercholesterolaemia is underdiagnosed and undertreated. European Heart Journal, 34(45), 3478–3490. PMID: 23956253
2. Defesche J.C., Gidding S.S., Harada-Shiba M., et al. (2017). Familial hypercholesterolaemia. Nature Reviews Disease Primers, 3, 17093. PMID: 29219129
3. Goldstein J.L., Brown M.S. (2015). A century of cholesterol and coronaries. Journal of Clinical Investigation, 125(3), 1004–1010. PMID: 25729878