PCSK9 Gene Hypercholesterolemia Autosomal Dominant Type 3 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Inherited High Cholesterol
The PCSK9 Gene Hypercholesterolemia Autosomal Dominant Type 3 NGS Genetic DNA Test represents a breakthrough in cardiovascular genetic medicine. This advanced diagnostic tool specifically targets mutations in the PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) gene, which plays a critical role in cholesterol metabolism regulation. When this gene malfunctions, it can lead to autosomal dominant type 3 hypercholesterolemia, a serious inherited condition characterized by dangerously elevated LDL cholesterol levels from early childhood.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the PCSK9 gene to identify pathogenic variants associated with familial hypercholesterolemia type 3. The test specifically detects:
- Missense mutations affecting PCSK9 protein function
- Frameshift mutations disrupting normal gene expression
- Nonsense mutations leading to premature protein termination
- Copy number variations affecting gene dosage
- Splice site mutations altering protein processing
Advanced NGS Technology
Utilizing state-of-the-art Next-Generation Sequencing technology, this test offers unparalleled accuracy in detecting even rare genetic variants. The comprehensive coverage ensures no significant mutation goes undetected, providing patients and healthcare providers with reliable genetic information for informed decision-making.
Who Should Consider This Genetic Test
This specialized genetic test is particularly recommended for individuals presenting with:
- Persistent high LDL cholesterol levels despite lifestyle modifications
- Family history of early-onset cardiovascular disease (before age 55 in men, 65 in women)
- Xanthomas (cholesterol deposits in tendons or skin)
- Corneal arcus (white ring around the iris) in younger individuals
- Unexplained high cholesterol in children or young adults
- Resistance to standard cholesterol-lowering medications
- Multiple family members with hypercholesterolemia
Clinical Indications
Patients with suspected familial hypercholesterolemia type 3 often present with LDL cholesterol levels exceeding 190 mg/dL in adults or 160 mg/dL in children. Early genetic testing can confirm diagnosis and guide appropriate treatment strategies.
Benefits of PCSK9 Genetic Testing
Undergoing this comprehensive genetic analysis offers numerous advantages:
- Early Diagnosis: Identifies genetic predisposition before severe complications develop
- Personalized Treatment: Enables targeted therapy with PCSK9 inhibitors when appropriate
- Family Screening: Facilitates genetic testing for at-risk relatives
- Risk Stratification: Provides accurate cardiovascular risk assessment
- Preventive Care: Supports early intervention to prevent heart attacks and strokes
- Reproductive Planning: Informs family planning decisions for affected individuals
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
Positive Result
A positive result indicates the presence of a pathogenic PCSK9 mutation. This confirms autosomal dominant type 3 hypercholesterolemia diagnosis and enables:
- Implementation of aggressive cholesterol management strategies
- Consideration of PCSK9 inhibitor therapy
- Regular cardiovascular monitoring
- Family member screening recommendations
Negative Result
A negative result suggests no detectable PCSK9 mutation. However, this doesn’t completely rule out other forms of hypercholesterolemia, and further evaluation may be necessary if clinical symptoms persist.
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance. In such cases, ongoing research and family studies may help clarify their clinical relevance over time.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of potential implications and limitations of testing
- Informed consent process
Nationwide Testing Availability
We proudly offer the PCSK9 Gene Hypercholesterolemia Autosomal Dominant Type 3 NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our conveniently located branches serve patients in:
- New York City and surrounding metropolitan areas
- Los Angeles and Southern California regions
- Chicago and Midwest territories
- Houston and Texas locations
- Phoenix and Arizona facilities
- All other major metropolitan areas nationwide
Take Control of Your Cardiovascular Health
Don’t let genetic predisposition to high cholesterol dictate your health outcomes. Early detection through comprehensive genetic testing provides the knowledge needed to implement effective prevention strategies and personalized treatment approaches.
Ready to schedule your PCSK9 genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process.
Take the first step toward understanding your genetic cardiovascular risk and implementing proactive health management strategies. Our experienced genetic counselors and medical professionals are committed to providing comprehensive support throughout your testing journey.
