ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic DNA Test
Comprehensive Genetic Screening for Neurological Disorders
The ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing methodology utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of the ABCD1 gene, which plays a critical role in peroxisomal function and fatty acid metabolism. Early detection through this test can significantly impact treatment outcomes and quality of life for individuals affected by these progressive neurological conditions.
What This Test Measures and Detects
This sophisticated genetic test specifically targets the ABCD1 gene located on the X chromosome, which encodes the adrenoleukodystrophy protein (ALDP). The test identifies:
- Pathogenic variants and mutations in the ABCD1 gene
- Specific genetic alterations responsible for X-linked adrenoleukodystrophy (X-ALD)
- Genetic markers associated with adrenomyeloneuropathy (AMN)
- Carrier status in female relatives
- De novo mutations in affected individuals
The NGS technology employed provides high-resolution analysis of the entire coding region, splice sites, and regulatory elements of the ABCD1 gene, ensuring comprehensive mutation detection with exceptional accuracy.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is particularly recommended for individuals experiencing:
- Progressive neurological deterioration in childhood or adulthood
- Adrenal insufficiency symptoms (Addison’s disease)
- Progressive spastic paraparesis and peripheral neuropathy
- Cognitive decline and behavioral changes
- Visual and hearing impairment of unknown origin
- Family history of X-ALD or AMN
- Unexplained white matter changes on brain MRI
At-Risk Populations
- Males with suspected cerebral childhood ALD
- Adults developing adrenomyeloneuropathy symptoms
- Female carriers seeking reproductive planning
- Individuals with family history of X-linked neurological disorders
- Newborns with positive family history for early intervention
Significant Benefits of Genetic Testing
Early Intervention and Management
Early detection through genetic testing provides numerous advantages:
- Timely Treatment Initiation: Enables early intervention with therapies like Lorenzo’s oil, steroid replacement, and hematopoietic stem cell transplantation
- Family Planning Guidance: Provides crucial information for reproductive decisions and prenatal testing options
- Proactive Monitoring: Allows for regular neurological and adrenal function monitoring in at-risk individuals
- Psychological Preparation: Helps families prepare for potential disease progression and management requirements
Clinical Decision Support
- Guides appropriate therapeutic interventions
- Supports eligibility determination for clinical trials
- Enables personalized treatment approaches based on genetic profile
>li>Facilitates targeted surveillance for disease complications
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic counseling services help you understand your results:
- Positive Result: Indicates the presence of a pathogenic ABCD1 gene mutation, confirming diagnosis of X-ALD or AMN
- Negative Result: Suggests absence of known ABCD1 mutations, though does not completely rule out the condition in rare cases
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: For females, indicates risk of passing the mutation to offspring
Post-Test Recommendations
- Comprehensive genetic counseling session
- Referral to neurology and endocrinology specialists
- Family member testing recommendations
- Long-term follow-up planning
- Support group connections and resources
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Test Name | ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic DNA Test |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
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 genetic counselors and neurological specialists ensures you receive comprehensive care regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about genetic neurological conditions affect your quality of life. Early detection through the ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic DNA Test can provide the clarity needed for informed healthcare decisions and proactive management strategies.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to guide you through the testing process and help you understand your results with compassion and expertise.
Take the first step toward understanding your genetic risk factors and securing your neurological health future. Contact us now to benefit from our special discounted pricing of $500 USD and comprehensive genetic analysis services.
