AMPD2 Gene SPG63 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Spastic Paraplegia
The AMPD2 Gene SPG63 NGS Genetic DNA Test represents a cutting-edge diagnostic tool for identifying mutations in the AMPD2 gene, which are responsible for SPG63, a rare autosomal recessive form of hereditary spastic paraplegia. This neurological condition affects the corticospinal tracts, leading to progressive spasticity and weakness in the lower limbs. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variations that contribute to this debilitating condition.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the AMPD2 gene, which encodes adenosine monophosphate deaminase 2, an enzyme crucial for purine metabolism in neural tissues. The test utilizes next-generation sequencing (NGS) technology to:
- Identify pathogenic variants in the AMPD2 gene
- Detect single nucleotide polymorphisms (SNPs) associated with SPG63
- Analyze copy number variations (CNVs) that may contribute to disease manifestation
- Provide comprehensive coverage of all coding regions and splice sites
- Offer high-resolution detection of both inherited and de novo mutations
Who Should Consider AMPD2 Gene Testing?
This genetic test is particularly recommended for individuals presenting with:
- Progressive lower limb weakness and spasticity beginning in childhood or early adulthood
- Difficulty walking with a characteristic spastic gait pattern
- Family history consistent with autosomal recessive inheritance
- Hyperreflexia and extensor plantar responses
- Urinary urgency or other sphincter disturbances
- Mild sensory abnormalities in the lower extremities
- Consanguineous family background
- Unexplained progressive neurological symptoms despite normal neuroimaging
Clinical Benefits of AMPD2 Genetic Testing
Undergoing AMPD2 gene testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out SPG63 with high specificity
- Family Planning: Enables informed reproductive decisions for at-risk couples
- Prognostic Information: Helps predict disease progression and severity
- Treatment Guidance: Supports development of personalized management strategies
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive report provides clear interpretation of your genetic findings:
- Positive Result: Indicates the presence of pathogenic AMPD2 mutations consistent with SPG63 diagnosis
- Negative Result: Suggests that AMPD2 mutations are not detected, though other genetic causes should be considered
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
All results are accompanied by detailed clinical correlations and recommendations from our board-certified genetic specialists.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | AMPD2 Gene SPG63 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with a neurologist or genetic specialist
- Understanding of potential psychological impacts of genetic results
Nationwide Accessibility
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 testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about hereditary spastic paraplegia affect your quality of life. Our AMPD2 Gene SPG63 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 and comprehensive genetic analysis, you can make informed decisions about your neurological health.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are available to answer your questions and guide you through the testing process.
Take control of your genetic health with the most advanced neurological genetic testing available. Contact us now to begin your journey toward accurate diagnosis and personalized care.
