LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Health
The LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying lysosomal acid lipase deficiency, a rare inherited metabolic disorder. This sophisticated genetic analysis provides crucial insights into cholesterol metabolism abnormalities that can significantly impact long-term health outcomes.
What Does This Test Measure?
This advanced genetic test specifically targets the LIPA gene, which encodes the lysosomal acid lipase enzyme responsible for breaking down cholesterol esters and triglycerides within cells. Through next-generation sequencing technology, the test comprehensively analyzes the entire LIPA gene to identify:
- Pathogenic mutations causing cholesteryl ester storage disease
- Missense, nonsense, and frameshift variants
- Splice site mutations affecting enzyme production
- Compound heterozygous or homozygous mutations
- Novel genetic variants with potential clinical significance
Who Should Consider This Test?
This genetic screening is particularly recommended for individuals presenting with:
- Unexplained hepatomegaly or liver enlargement
- Persistent elevated liver enzymes without clear cause
- Early-onset hypercholesterolemia or hypertriglyceridemia
- Family history of metabolic disorders or premature cardiovascular disease
- Children with failure to thrive and gastrointestinal symptoms
- Siblings of diagnosed CESD patients for carrier screening
- Individuals with adrenal calcification or adrenal insufficiency
Clinical Benefits of Early Detection
Early identification of LIPA gene mutations offers significant advantages for patient management:
- Enables timely intervention with enzyme replacement therapy
- Facilitates appropriate dietary and lifestyle modifications
- Provides accurate genetic counseling for family planning
- Helps prevent progressive liver damage and cirrhosis
- Reduces risk of premature atherosclerosis and cardiovascular complications
- Supports personalized treatment strategies based on genetic profile
Understanding Your Test Results
Your genetic test report will provide comprehensive information about your LIPA gene status:
- Normal Result: No pathogenic variants detected – indicates low risk for CESD
- Carrier Status: One mutated copy identified – typically asymptomatic but important for family planning
- Affected Status: Two mutated copies confirmed – indicates cholesteryl ester storage disease diagnosis
- Variant of Uncertain Significance: Genetic change identified with unknown clinical impact requiring further evaluation
All positive results include detailed interpretation by our certified genetic counselors to ensure proper understanding and next steps.
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test | $500 USD | $700 USD |
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 state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Control of Your Metabolic Health Today
Don’t wait to uncover potential genetic factors affecting your cholesterol metabolism and overall health. Our comprehensive LIPA gene testing provides the clarity needed for informed healthcare decisions and proactive management of metabolic conditions.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Our genetic specialists are ready to guide you through the testing process and help you understand your results for better health outcomes.
