ABCA1 Gene HDL Deficiency Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Cholesterol Metabolism Disorders
The ABCA1 Gene HDL Deficiency Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with impaired cholesterol transport and metabolism. This sophisticated genetic analysis utilizes next-generation sequencing technology to examine the ABCA1 gene, which plays a critical role in the reverse cholesterol transport pathway—the body’s natural mechanism for removing excess cholesterol from tissues and returning it to the liver for processing.
Understanding the Science Behind HDL Deficiency
High-density lipoprotein (HDL) cholesterol, often referred to as “good cholesterol,” serves as the primary vehicle for reverse cholesterol transport. The ABCA1 gene encodes a protein that facilitates the initial step of HDL formation by transferring cellular cholesterol and phospholipids to apolipoprotein A-I. Mutations in this gene disrupt this essential process, leading to significantly reduced HDL cholesterol levels and increased risk of cardiovascular complications.
What the Test Detects and Measures
Our advanced NGS genetic testing platform comprehensively analyzes the entire ABCA1 gene to identify:
- Pathogenic mutations associated with Tangier disease
- Genetic variants linked to familial HDL deficiency type 2
- Single nucleotide polymorphisms affecting cholesterol efflux
- Deletions, insertions, and missense mutations impacting protein function
- Compound heterozygous and homozygous genetic patterns
Clinical Significance of ABCA1 Gene Mutations
Mutations in the ABCA1 gene can result in either autosomal recessive Tangier disease or autosomal dominant familial HDL deficiency. The severity of clinical manifestations depends on the specific mutation type and inheritance pattern, ranging from complete absence of HDL cholesterol to moderately reduced levels with varying cardiovascular risk profiles.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This genetic test is particularly recommended for individuals presenting with:
- Persistently low HDL cholesterol levels (< 30 mg/dL) without clear secondary causes
- Orange-yellow tonsils or enlarged, orange-colored tonsils
- Splenomegaly or hepatosplenomegaly of unknown origin
- Peripheral neuropathy, particularly sensory neuropathy
- Premature coronary artery disease or cardiovascular events
- Family history of low HDL cholesterol or early heart disease
- Corneal opacities or other ocular manifestations
- Unexplained thrombocytopenia or hematological abnormalities
High-Risk Population Screening
Individuals with first-degree relatives diagnosed with Tangier disease or familial HDL deficiency should strongly consider genetic testing for early detection and preventive management strategies.
Benefits of ABCA1 Genetic Testing
Comprehensive Diagnostic Clarity
Our NGS-based genetic testing provides definitive diagnosis for patients with suspected ABCA1-related disorders, eliminating diagnostic uncertainty and enabling targeted management approaches.
Personalized Risk Assessment
- Accurate genetic diagnosis guides appropriate cardiovascular risk stratification
- Enables family screening and genetic counseling for at-risk relatives
- Informs reproductive planning decisions for affected individuals
- Facilitates early intervention and preventive care strategies
Clinical Management Advantages
Genetic confirmation allows healthcare providers to:
- Implement tailored lipid management protocols
- Monitor for specific complications associated with ABCA1 mutations
- Provide accurate prognosis and long-term health monitoring
- Coordinate multidisciplinary care involving cardiologists, geneticists, and neurologists
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report includes detailed interpretation of identified variants according to ACMG guidelines:
- Pathogenic/Likely Pathogenic Variants: Confirmed diagnosis of ABCA1-related disorder with specific management recommendations
- Variants of Uncertain Significance: Requires correlation with clinical findings and possible family studies
- Benign/Likely Benign Variants: No evidence of disease-causing mutation in ABCA1 gene
Post-Test Genetic Counseling
All positive results include genetic counseling sessions to discuss:
- Implications for personal health management
- Family inheritance patterns and risk assessment
- Reproductive options and prenatal testing considerations
- Lifestyle modifications and medical monitoring recommendations
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | ABCA1 Gene HDL Deficiency Type 2 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
| Specialty | Metabolic Genetics |
Pre-Test Requirements
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Review of previous lipid profiles and cardiovascular assessments
- 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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your cholesterol metabolism genetics compromise your health. Our ABCA1 Gene HDL Deficiency Type 2 NGS Genetic DNA Test provides the definitive answers you need for informed healthcare decisions. With our special discounted price of only $500 USD, comprehensive genetic analysis is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results for better health outcomes.
Early genetic diagnosis empowers proactive health management and can significantly impact long-term cardiovascular wellness. Take the first step toward understanding your genetic predisposition to HDL deficiency disorders with our advanced NGS testing technology.
