PMP22 Gene Dejerine-Sottas Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Neuropathy
The PMP22 Gene Dejerine-Sottas Disease NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with one of the most severe forms of hereditary neuropathy. Dejerine-Sottas disease, also known as hereditary motor and sensory neuropathy type III, is a progressive neurological disorder that typically manifests in early childhood and leads to significant disability if left undiagnosed.
What This Advanced Genetic Test Measures
This sophisticated Next-Generation Sequencing (NGS) test specifically analyzes the PMP22 (Peripheral Myelin Protein 22) gene for mutations that cause Dejerine-Sottas disease. The PMP22 gene plays a critical role in producing proteins essential for the formation and maintenance of the myelin sheath – the protective covering that insulates nerve fibers and ensures proper nerve signal transmission.
- Detection of point mutations, deletions, and duplications in the PMP22 gene
- Identification of specific genetic variants associated with disease severity
- Comprehensive analysis of all coding regions and splice sites
- High-resolution mapping of genetic abnormalities affecting peripheral nerves
Who Should Consider This Genetic Test
This test is particularly important for individuals displaying symptoms of progressive neurological decline or those with a family history of hereditary neuropathies. Key indicators for testing include:
- Infants and children showing delayed motor milestones
- Progressive muscle weakness in limbs beginning in early childhood
- Sensory loss including reduced sensation to touch, pain, and temperature
- Foot deformities such as high arches (pes cavus) or hammertoes
- Gait abnormalities and frequent tripping or falling
- Reduced or absent deep tendon reflexes
- Family history of similar neurological symptoms across generations
- Unexplained peripheral neuropathy in childhood
Significant Benefits of Early Genetic Testing
Undergoing the PMP22 Gene Dejerine-Sottas Disease NGS Genetic DNA Test provides numerous advantages for patients and families facing potential hereditary neuropathy:
- Accurate Diagnosis: Provides definitive genetic confirmation, eliminating diagnostic uncertainty
- Early Intervention: Enables timely implementation of supportive therapies and management strategies
- Family Planning: Informs reproductive decisions and genetic counseling for at-risk relatives
- Personalized Treatment: Guides development of individualized care plans based on specific genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances scientific understanding of hereditary neuropathies
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors. The report typically includes:
- Positive Result: Indicates the presence of a PMP22 gene mutation associated with Dejerine-Sottas disease, confirming the diagnosis and enabling targeted management
- Negative Result: Suggests that PMP22 mutations were not detected, though other genetic or acquired causes of neuropathy may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown, requiring ongoing monitoring and possible family studies
- Carrier Status: For family members, results may indicate carrier status with implications for genetic inheritance patterns
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Accessibility and Support
We maintain comprehensive testing facilities across the United States, with specialized neurology and genetics departments in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures that advanced genetic testing is accessible to patients nationwide.
Before testing, we recommend a genetic counseling session to discuss family history, create a detailed pedigree chart, and ensure you fully understand the implications of testing. Our team of board-certified neurologists and genetic specialists provides ongoing support throughout the testing process and beyond.
Take Control of Your Neurological Health Today
Don’t let uncertainty about hereditary neuropathy affect your quality of life. Early genetic testing can provide the answers needed for effective management and treatment planning. Our dedicated team is ready to assist you with scheduling, sample collection, and result interpretation.
Call or WhatsApp us today at +1(267) 388-9828 to book your PMP22 Gene Dejerine-Sottas Disease NGS Genetic DNA Test and take the first step toward definitive diagnosis and personalized care.
