HSPD1 Gene Leukodystrophy Hypomyelinating Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The HSPD1 Gene Leukodystrophy Hypomyelinating Type 4 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the HSPD1 gene, which plays a critical role in myelin formation and maintenance throughout the nervous system. Myelin, the protective sheath surrounding nerve fibers, is essential for proper neural communication and motor function development.
What This Test Detects
Our NGS-based genetic analysis precisely identifies:
- Pathogenic variants in the HSPD1 gene associated with hypomyelinating leukodystrophy
- Specific mutations affecting heat shock protein 60 (HSP60) function
- Genetic markers for autosomal recessive leukodystrophy type 4
- Variants impacting mitochondrial protein folding and quality control
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or early childhood
- Progressive neurological deterioration with motor coordination issues
- Family history of leukodystrophy or similar neurological conditions
- Abnormal brain MRI findings showing hypomyelination
- Spasticity, ataxia, or movement disorders of unknown origin
- Cognitive impairment with progressive neurological symptoms
Key Benefits of Genetic Testing
Comprehensive Diagnostic Advantages
- Accurate Diagnosis: Provides definitive genetic confirmation for rare neurological conditions
- Early Intervention: Enables timely therapeutic strategies and management plans
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Treatment Guidance: Helps neurologists develop targeted treatment approaches
- Prognostic Insights: Provides valuable information about disease progression and outcomes
Understanding Your Test Results
Interpreting Genetic Findings
Our comprehensive genetic report includes:
- Detailed analysis of HSPD1 gene variants with clinical significance
- Clear interpretation of pathogenic, likely pathogenic, and variant of uncertain significance findings
- Correlation between genetic results and clinical manifestations
- Recommendations for follow-up testing and specialist consultations
- Genetic counseling guidance for patients and family members
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We have diagnostic centers across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality genetic testing services nationwide.
Take Control of Your Neurological Health
Early genetic diagnosis can significantly impact treatment outcomes and quality of life for individuals with hypomyelinating leukodystrophy. Our expert team of genetic counselors and neurologists work together to provide comprehensive care and support throughout the testing process.
Ready to schedule your HSPD1 genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward accurate diagnosis and personalized care for neurological conditions.
