ABCA1 Gene Tangier Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Tangier Disease
The ABCA1 Gene Tangier Disease NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the ATP-binding cassette transporter A1 (ABCA1) gene, which is responsible for Tangier disease. This rare autosomal recessive metabolic disorder affects cholesterol transport and metabolism, leading to distinctive clinical manifestations that can significantly impact quality of life.
What is Tangier Disease?
Tangier disease is a rare genetic condition characterized by extremely low levels of high-density lipoprotein (HDL) cholesterol in the blood, enlarged orange-colored tonsils, peripheral neuropathy, and potential cardiovascular complications. The disease results from mutations in the ABCA1 gene, which plays a crucial role in cholesterol efflux from cells to apolipoprotein A-I, the primary protein component of HDL particles.
What the Test Measures and Detects
Our advanced NGS genetic testing technology provides comprehensive analysis of the ABCA1 gene to identify:
- Point mutations and single nucleotide variants
- Insertions and deletions (indels)
- Copy number variations
- Splice site mutations
- Regulatory region abnormalities
The test utilizes next-generation sequencing technology to examine the entire coding region and critical regulatory elements of the ABCA1 gene, ensuring maximum detection sensitivity for both known and novel mutations associated with Tangier disease.
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Persistently low HDL cholesterol levels (<5 mg/dL)
- Orange or yellow discolored tonsils
- Peripheral neuropathy with sensory and motor deficits
- Splenomegaly (enlarged spleen)
- Corneal opacities or clouding
- Family history of Tangier disease or premature cardiovascular disease
- Unexplained lipid abnormalities despite normal diet and lifestyle
- Neurological symptoms including muscle weakness and sensory loss
Genetic Counseling Requirements
Before testing, we recommend genetic counseling to:
- Discuss the implications of genetic testing
- Create a detailed family pedigree chart
- Understand inheritance patterns and recurrence risks
- Address psychological and emotional considerations
- Plan for potential results and next steps
Benefits of Taking the ABCA1 Genetic Test
Undergoing genetic testing for Tangier disease provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Tangier disease with high precision
- Personalized Treatment: Enables targeted management strategies for lipid abnormalities
- Family Planning: Provides crucial information for reproductive decisions and carrier testing
- Early Intervention: Facilitates proactive management of potential complications
- Neurological Monitoring: Guides appropriate surveillance for peripheral neuropathy
- Cardiovascular Risk Assessment: Helps evaluate and manage associated cardiovascular risks
- Genetic Counseling: Supports informed decision-making for affected individuals and families
Understanding Your Test Results
Possible Outcomes and Their Meanings
Your genetic test results will fall into one of several categories:
Positive Result
Identification of two pathogenic mutations in the ABCA1 gene confirms the diagnosis of Tangier disease. This result indicates an autosomal recessive inheritance pattern and provides definitive diagnostic information for clinical management.
Carrier Status
Detection of a single pathogenic mutation indicates carrier status. Carriers typically do not develop Tangier disease but have a 50% chance of passing the mutation to each offspring.
Negative Result
No pathogenic mutations detected in the ABCA1 gene. This significantly reduces the likelihood of Tangier disease, though rare mutations in regulatory regions or other genes may still be considered.
Variant of Uncertain Significance (VUS)
Identification of genetic changes with unknown clinical significance. These variants require additional family studies and ongoing research to determine their pathological relevance.
Post-Test Recommendations
- Follow-up consultation with a metabolic specialist or geneticist
- Regular monitoring of lipid profiles and neurological function
- Cardiovascular risk assessment and management
- Family member testing when appropriate
- Lifestyle modifications and dietary recommendations
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | ABCA1 Gene Tangier Disease NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
| Specialty | Metabolic Genetics |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Miami, Dallas, Phoenix, Philadelphia, and many other cities. Our state-of-the-art laboratories ensure consistent, high-quality testing standards nationwide.
Take Action Today
Don’t let uncertainty about potential genetic conditions affect your health and peace of mind. Our comprehensive ABCA1 genetic testing provides the clarity you need for informed healthcare decisions. With our discounted price of $500 USD and nationwide availability, accessing advanced genetic testing has never been more convenient.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your ABCA1 Gene Tangier Disease NGS Genetic DNA Test. Our genetic specialists are available to answer your questions and guide you through the testing process with compassion and expertise.
Take the first step toward understanding your genetic health and ensuring optimal management of potential metabolic disorders. Contact us now to begin your journey to genetic clarity and personalized healthcare.
