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EPHX2 Gene Hypercholesterolemia, familial, due to LDLR defect, modifier of NGS Genetic Test

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EPHX2 Gene Hypercholesterolemia, familial, due to LDLR defect, modifier of NGS Genetic Test

Short Name: EPHX2 Gene Hypercholesterolemia Test

EPHX2 Gene Hypercholesterolemia, familial, due to LDLR defect, modifier of NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify pathogenic variants in the EPHX2 gene that modify the risk and severity of familial hypercholesterolemia associated with LDLR defects, aiding in personalized medical management and genetic counseling.

Test Code
2082
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation required. A genetic counseling session is recommended to discuss family history and test implications.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture or finger prick by a trained professional using sterile techniques.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bleeding. Keep the area clean.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to understand implications, provide informed consent, and document family history via a pedigree chart.
2
During the Test:Sample collection is quick and minimally invasive, followed by DNA extraction and NGS analysis in the lab.
3
After the Test:Results are delivered in 3-4 weeks; follow-up genetic counseling to interpret findings and plan next steps.

About This Test

Who Should Get This Test

To identify pathogenic variants in the EPHX2 gene that modify the risk and severity of familial hypercholesterolemia associated with LDLR defects, aiding in personalized medical management and genetic counseling.

How to Prepare

  • Ensure patient identification matches sample labels
  • Use appropriate collection tubes (EDTA or FTA card)
  • Transport sample to lab within stability period

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test identifies genetic modifiers of familial hypercholesterolemia, aiding in personalized risk assessment and management for patients with LDLR defects."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger prick

Sample Stability

Blood: Stable for 48 hours at room temperature
DNA: Stable for years if stored at -20°C or below
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling or container

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the EPHX2 gene, which may influence cholesterol levels and cardiovascular risk in familial hypercholesterolemia.
📊

Positive for pathogenic variant

Variant detected; may increase risk or modify severity of hypercholesterolemia. Clinical correlation and genetic counseling are essential.

📊

Negative for pathogenic variant

No variant detected; does not rule out other genetic causes. Consider additional testing if clinical suspicion remains.

⚠️ When to Consult a Doctor:

If symptoms of hypercholesterolemia persist, family history suggests genetic risk, or after receiving test results to discuss management options.

Limitations

  • ⚠May not detect all possible genetic variants
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Does not replace comprehensive lipid profile testing

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results, mitigated by counseling

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample contamination
  • ●Technical errors in sequencing

Compare With Similar Tests

TestEPHX2 Gene Hypercholesterolemia, familial, due to LDLR defect, modifier of NGS Genetic TestLDLR Gene Mutation TestLipid Profile TestAPOB Gene Test
ComparisonEPHX2 Gene Hypercholesterolemia, familial, due to LDLR defect, modifier of NGS Genetic Test

Frequently Asked Questions

What is the EPHX2 gene hypercholesterolemia test?
It is an NGS genetic test that analyzes the EPHX2 gene to identify variants that may modify familial hypercholesterolemia caused by LDLR defects, helping assess genetic risk.
Who should consider this test?
Individuals with a family history of high cholesterol, early heart disease, or symptoms like xanthomas, and those seeking genetic counseling for hypercholesterolemia.
How is the test performed?
A blood or DNA sample is collected and analyzed using next-generation sequencing technology to detect mutations in the EPHX2 gene.
What does a positive result mean?
A positive result indicates a pathogenic variant in the EPHX2 gene, which may increase cardiovascular risk or modify disease severity; genetic counseling is recommended.
What is the cost of the test in India?
The test costs INR 20,000, which includes sample collection, genetic analysis, and report delivery.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
What are the symptoms of EPHX2 gene hypercholesterolemia?
Symptoms include high LDL cholesterol, xanthomas (cholesterol deposits under skin), xanthelasmas (around eyes), arcus cornealis (eye ring), and increased risk of early heart disease.
Can this test diagnose familial hypercholesterolemia?
It helps identify genetic modifiers but may not be solely diagnostic; diagnosis often combines genetic testing, cholesterol levels, and family history.
What should I do after receiving test results?
Consult a genetic counselor or healthcare provider to interpret results, discuss risk management, and consider lifestyle or treatment options.
Is the test covered by insurance?
Coverage varies; check with your insurance provider or schemes like PMJAY, CGHS, ECHS, ESIC, or private policies for eligibility.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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