EPHX2 Gene Hypercholesterolemia Familial Due to LDLR Defect Modifier NGS Genetic DNA Test
Understanding the EPHX2 Gene Modifier Test
The EPHX2 Gene Hypercholesterolemia familial due to LDLR defect modifier NGS Genetic DNA Test represents a cutting-edge advancement in cardiovascular genetic testing. This specialized analysis focuses on the EPHX2 gene, which encodes soluble epoxide hydrolase (sEH), an enzyme that plays a crucial role in lipid metabolism and cardiovascular health. When combined with LDLR gene defects associated with familial hypercholesterolemia, EPHX2 variations can significantly modify disease severity, treatment response, and clinical outcomes.
What Does This Test Measure?
This comprehensive genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the complete coding region of the EPHX2 gene, identifying:
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Copy number variations impacting gene expression
- Structural variants influencing metabolic pathways
- Epoxide hydrolase activity modifications
- Genetic interactions with LDLR mutations
Who Should Consider This Test?
Clinical Indications and Symptoms
This test is particularly recommended for individuals experiencing:
- Early-onset cardiovascular disease (before age 55 in men, 65 in women)
- Persistent high LDL cholesterol despite statin therapy
- Family history of premature heart attacks or strokes
- Xanthomas (cholesterol deposits in skin or tendons)
- Corneal arcus (cholesterol rings around the cornea)
- Unexplained high cholesterol in multiple family members
- Variable response to cholesterol-lowering medications
Benefits of Genetic Testing
Undergoing the EPHX2 modifier test provides numerous advantages:
- Personalized Treatment Planning: Results guide medication selection and dosage optimization
- Family Risk Assessment: Identifies at-risk relatives for early intervention
- Proactive Health Management: Enables lifestyle modifications before complications develop
- Improved Prognostic Accuracy: Helps predict disease progression and cardiovascular risk
- Informed Reproductive Decisions: Provides genetic counseling information for family planning
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully analyzed and interpreted by our certified genetic counselors:
- Positive for Modifier Variants: Indicates EPHX2 gene variations that may worsen LDLR-related hypercholesterolemia
- Negative Results: Suggests standard LDLR defect progression without additional genetic modifiers
- Variants of Uncertain Significance: Requires additional family studies and clinical correlation
- Compound Heterozygotes: Multiple variants that may have additive effects on cholesterol metabolism
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | EPHX2 Gene Hypercholesterolemia Familial Due to LDLR Defect Modifier NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Review of affected family members’ medical histories
- Discussion of testing implications and potential outcomes
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and phlebotomists ensures accessible, high-quality care regardless of your location.
Take Control of Your Cardiovascular Health
Understanding your genetic predisposition to hypercholesterolemia can be life-changing. The EPHX2 modifier test provides critical information that empowers you and your healthcare provider to develop targeted prevention and treatment strategies. Don’t leave your heart health to chance – gain the genetic insights needed for proactive cardiovascular care.
Ready to Schedule Your Test?
Call our genetic specialists today at +1(267) 388-9828 to schedule your comprehensive genetic assessment. Our team is available to answer your questions, discuss insurance coverage options, and help you take the first step toward personalized cardiovascular health management.
Book your EPHX2 Gene Hypercholesterolemia Modifier Test now and save $200 with our special discount pricing!
