LPL Gene Hyperlipoproteinemia Type 1 NGS Genetic DNA Test
Understanding Hyperlipoproteinemia Type 1 and Genetic Testing
Hyperlipoproteinemia Type 1, also known as familial chylomicronemia syndrome, is a rare inherited metabolic disorder characterized by the body’s inability to properly break down fats. This condition results from mutations in the LPL gene, which encodes lipoprotein lipase – a crucial enzyme responsible for breaking down triglycerides in the bloodstream. When this enzyme is deficient or dysfunctional, chylomicrons (fat-carrying particles) accumulate in the blood, leading to severe health complications including recurrent pancreatitis, abdominal pain, and eruptive skin lesions.
What Our Advanced NGS Test Detects
Our comprehensive LPL Gene Hyperlipoproteinemia Type 1 NGS Genetic DNA Test utilizes cutting-edge Next-Generation Sequencing technology to analyze the entire LPL gene with exceptional accuracy. The test specifically identifies:
- Point mutations affecting lipoprotein lipase function
- Insertions and deletions in the LPL gene sequence
- Missense, nonsense, and frameshift mutations
- Regulatory region variants affecting gene expression
- Compound heterozygous and homozygous mutations
Who Should Consider This Genetic Test?
This test is recommended for individuals experiencing symptoms or having risk factors associated with Hyperlipoproteinemia Type 1:
- Recurrent episodes of severe abdominal pain suggesting pancreatitis
- Eruptive xanthomas (yellowish skin bumps) particularly on buttocks and extremities
- Hepatosplenomegaly (enlarged liver and spleen)
- Lipemia retinalis (milky appearance of retinal blood vessels)
- Family history of severe hypertriglyceridemia or pancreatitis
- Persistent extremely high triglyceride levels (>1000 mg/dL)
- Unexplained neurological symptoms in childhood
Clinical Benefits of Genetic Testing
Undergoing the LPL Gene Hyperlipoproteinemia Type 1 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out genetic basis for symptoms
- Personalized Treatment: Guides dietary and medication management
- Family Planning: Provides information for genetic counseling
- Risk Assessment: Identifies at-risk family members
- Prevention Strategies: Helps prevent pancreatitis episodes
- Early Intervention: Enables proactive management before complications develop
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies specific LPL gene mutation(s) confirming diagnosis
- Negative Result: No pathogenic variants detected in LPL gene
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact
- Carrier Status: Identifies individuals with one mutated copy of the gene
All results include detailed interpretation by our board-certified genetic counselors, who provide personalized recommendations for management and follow-up care.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | LPL Gene Hyperlipoproteinemia Type 1 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
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and management options
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 collection centers ensures accessible testing regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your genetic risk for Hyperlipoproteinemia Type 1 affect your quality of life. Our advanced NGS genetic testing provides the clarity needed for effective management and prevention of serious complications. Early diagnosis through genetic testing can significantly improve long-term outcomes and quality of life.
Ready to take the next step? Book your LPL Gene Hyperlipoproteinemia Type 1 NGS Genetic DNA Test today by calling our dedicated genetic testing specialists at +1(267) 388-9828 or schedule your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
