LIPA Gene Wolman Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Wolman Disease
The LIPA Gene Wolman Disease NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic disorders. This advanced testing methodology utilizes next-generation sequencing technology to provide comprehensive analysis of the LIPA gene, which plays a critical role in lipid metabolism. Wolman disease is an autosomal recessive lysosomal storage disorder characterized by the accumulation of cholesterol esters and triglycerides in various tissues, leading to severe health complications if left undiagnosed.
What This Test Measures and Detects
Our NGS-based genetic test specifically targets the LIPA gene (lysosomal acid lipase A), which encodes the enzyme responsible for breaking down cholesterol esters and triglycerides within lysosomes. The test identifies:
- Pathogenic variants and mutations in the LIPA gene
- Single nucleotide polymorphisms associated with Wolman disease
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations
- Carrier status for family members
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of Wolman disease or those with a family history of the condition. Key indications include:
- Infants with failure to thrive and feeding difficulties
- Patients exhibiting hepatosplenomegaly (enlarged liver and spleen)
- Individuals with adrenal calcification detected on imaging
- Children with vomiting, diarrhea, and steatorrhea
- Families with a history of unexplained infant deaths
- Couples planning pregnancy with known family history of metabolic disorders
Clinical Benefits of Genetic Testing
Early detection through genetic testing provides numerous advantages for patients and families:
- Enables early intervention and treatment planning
- Facilitates enzyme replacement therapy when appropriate
- Provides accurate genetic counseling for family planning
- Reduces diagnostic uncertainty and unnecessary testing
- Allows for personalized management strategies
- Supports prenatal diagnosis in subsequent pregnancies
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of pathogenic mutations confirming Wolman disease diagnosis
- Negative Result: Suggests no detected mutations in the LIPA gene, though clinical correlation is essential
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and treatment. Our genetic counselors are available to discuss your testing options and provide comprehensive support throughout the process. Contact us today to schedule your LIPA Gene Wolman Disease NGS Genetic DNA Test.
Call or WhatsApp: +1(267) 388-9828 to book your appointment or speak with our genetic specialists. Early detection can make a significant difference in managing Wolman disease effectively.
