MPZ Gene Dejerine-Sottas Disease NGS Genetic DNA Test
Understanding Dejerine-Sottas Disease and MPZ Gene Testing
Dejerine-Sottas disease represents a severe form of hereditary motor and sensory neuropathy (HMSN) that typically manifests in early childhood. This progressive neurological disorder affects the peripheral nerves, leading to significant motor and sensory impairments. The MPZ gene, which encodes myelin protein zero, plays a crucial role in maintaining the structural integrity of the myelin sheath that insulates nerve fibers. When mutations occur in this gene, the myelin sheath deteriorates, disrupting nerve signal transmission and causing the characteristic symptoms of Dejerine-Sottas disease.
What This Advanced Genetic Test Detects
Our comprehensive NGS (Next-Generation Sequencing) genetic test specifically targets the MPZ gene to identify pathogenic variants responsible for Dejerine-Sottas disease. The test examines:
- Point mutations affecting myelin protein zero structure
- Frameshift mutations disrupting protein function
- Nonsense mutations leading to premature protein termination
- Missense mutations altering critical protein domains
- Deletion and duplication variants affecting gene dosage
Clinical Significance of MPZ Gene Mutations
Mutations in the MPZ gene account for approximately 5-10% of all Charcot-Marie-Tooth disease cases and are particularly associated with the severe Dejerine-Sottas phenotype. The myelin protein zero produced by this gene serves as the major structural component of peripheral nerve myelin, forming adhesive interactions that compact the myelin sheath. When these interactions fail due to genetic mutations, the myelin becomes unstable and degenerates, leading to progressive nerve damage.
Who Should Consider MPZ Gene Testing?
This genetic test is recommended for individuals presenting with:
- Early childhood onset of progressive muscle weakness
- Delayed motor milestones (walking after 18 months)
- Foot deformities including pes cavus (high arches)
- Progressive sensory loss in extremities
- Reduced or absent deep tendon reflexes
- Family history of peripheral neuropathy
- Unexplained muscle atrophy in hands and feet
- Difficulty with fine motor skills
Early Detection Benefits
Early genetic diagnosis enables proactive management strategies that can significantly improve quality of life. Identifying MPZ gene mutations allows for:
- Timely implementation of physical therapy programs
- Appropriate orthopedic interventions
- Genetic counseling for family planning decisions
- Accurate prognosis and disease progression monitoring
- Participation in clinical trials for emerging therapies
Comprehensive Benefits of Genetic Testing
Undergoing MPZ gene testing provides numerous advantages for patients and families:
- Definitive Diagnosis: Eliminates diagnostic uncertainty and prevents unnecessary testing
- Family Planning Guidance: Enables informed reproductive decisions with 50% inheritance risk
- Personalized Treatment: Guides targeted therapeutic approaches and symptom management
- Prognostic Information: Provides insight into disease progression and expected outcomes
- Psychological Relief: Reduces anxiety by providing clear answers about symptoms
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic MPZ gene mutation. This confirms the diagnosis of Dejerine-Sottas disease and provides specific information about:
- The exact genetic variant identified
- Inheritance pattern (typically autosomal dominant)
- Implications for family members
- Recommended management strategies
Negative Result Considerations
A negative result means no pathogenic MPZ mutations were detected. However, this doesn’t completely rule out hereditary neuropathy, as other genes can cause similar symptoms. Further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance
Occasionally, we identify genetic changes whose clinical significance is unknown. In such cases, we provide ongoing monitoring and may recommend testing family members to help determine variant significance.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Test Name | MPZ Gene Dejerine-Sottas Disease NGS Genetic DNA Test |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. Our MPZ Gene Dejerine-Sottas Disease NGS Genetic DNA Test provides the answers you need to make informed healthcare decisions. With results available in 3-4 weeks and comprehensive genetic counseling included, you’ll receive the expert guidance necessary to understand your genetic profile and plan for the future.
Ready to begin your genetic testing journey? Contact our genetic specialists today at +1(267) 388-9828 to schedule your appointment or book your test online. Take the first step toward clarity and personalized neurological care.
