ABCD1 Gene Adrenoleukodystrophy X-Linked NGS Genetic DNA Test
Comprehensive Genetic Testing for X-Linked Adrenoleukodystrophy
The ABCD1 Gene Adrenoleukodystrophy X-Linked NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with X-linked adrenoleukodystrophy (X-ALD). This progressive neurodegenerative disorder affects the white matter of the nervous system and adrenal cortex function, making early identification crucial for effective management and treatment planning.
What Does This Test Measure and Detect?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the ABCD1 gene located on the X chromosome. The test specifically identifies:
- Pathogenic variants in the ABCD1 gene that disrupt peroxisomal beta-oxidation
- Mutations causing abnormal accumulation of very long-chain fatty acids (VLCFAs)
- Genetic alterations responsible for impaired adrenal function and neurological deterioration
- Carrier status in females who may pass the condition to their children
- Specific mutation types including missense, nonsense, frameshift, and splice-site variants
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with specific clinical indications:
- Males with neurological symptoms including progressive cognitive decline, behavioral changes, vision or hearing loss, and motor coordination difficulties
- Individuals with adrenal insufficiency showing symptoms like fatigue, weakness, weight loss, and skin hyperpigmentation
- Family members of diagnosed X-ALD patients for carrier testing and genetic counseling
- Women with family history of X-ALD considering family planning decisions
- Boys aged 4-10 years with unexplained neurological deterioration
- Individuals with abnormal VLCFA levels requiring genetic confirmation
Key Benefits of ABCD1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early Intervention Opportunities: Enables proactive management before significant neurological damage occurs
- Accurate Diagnosis: Provides definitive genetic confirmation of X-ALD, eliminating diagnostic uncertainty
- Family Planning Guidance: Helps carriers make informed reproductive decisions
- Treatment Planning: Guides appropriate therapeutic interventions including adrenal hormone replacement and potential hematopoietic stem cell transplantation
- Genetic Counseling Foundation: Provides essential information for comprehensive genetic counseling sessions
- Prognostic Information: Helps predict disease progression and anticipate clinical needs
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:
- Positive Result: Indicates the presence of a pathogenic ABCD1 gene mutation confirming X-ALD diagnosis or carrier status
- Negative Result: Suggests no detectable mutation in the ABCD1 gene, though clinical correlation remains essential
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: For females, indicates whether they carry one copy of the mutated gene
All positive results include detailed recommendations for clinical management, family testing, and appropriate follow-up care with neurology and endocrinology specialists.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | ABCD1 Gene Adrenoleukodystrophy X-Linked 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) |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient 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 collection centers ensures accessible testing for patients nationwide.
Take Control of Your Neurological Health Today
Don’t let uncertainty about genetic neurological conditions affect your family’s future. Our ABCD1 Gene Adrenoleukodystrophy X-Linked NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With our special discounted price of $500 (regularly $700), comprehensive genetic analysis has never been more accessible.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated genetic specialists are ready to guide you through the testing process and help you understand your results with compassion and expertise.
Early detection through advanced genetic testing can make a significant difference in managing X-linked adrenoleukodystrophy. Take the first step toward genetic clarity and proactive healthcare management by contacting our team today.
