MPZ Full Length Gene Sequence Analysis for Charcot-Marie-Tooth Disease
Comprehensive Genetic Testing for Inherited Neuropathy
The MPZ Full Length Gene Sequence Analysis represents a cutting-edge diagnostic approach for identifying genetic mutations responsible for Charcot-Marie-Tooth Disease (CMT), a hereditary neurological disorder affecting peripheral nerves. This specialized genetic test provides crucial insights into the molecular basis of CMT, enabling accurate diagnosis and personalized treatment strategies for patients experiencing progressive neuromuscular symptoms.
What Does This Test Measure?
This comprehensive genetic analysis specifically targets the MPZ (Myelin Protein Zero) gene, which plays a critical role in maintaining the structural integrity of peripheral nerve myelin. The test utilizes advanced Sanger sequencing technology to examine the complete coding sequence of the MPZ gene, identifying:
- Point mutations affecting protein function
- Frameshift mutations disrupting gene reading
- Nonsense mutations leading to premature protein termination
- Missense mutations altering protein structure
- Splice site mutations affecting RNA processing
Who Should Consider MPZ Genetic Testing?
This test is particularly recommended for individuals presenting with symptoms suggestive of Charcot-Marie-Tooth Disease, including:
- Progressive muscle weakness in feet and hands
- Foot deformities such as high arches or hammertoes
- Decreased sensation in extremities
- Difficulty with balance and coordination
- Family history of peripheral neuropathy
- Delayed motor development in children
- Muscle atrophy in lower legs
- Reduced or absent deep tendon reflexes
Clinical Benefits of MPZ Gene Analysis
Undergoing MPZ Full Length Gene Sequence Analysis offers numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive genetic confirmation of CMT type 1B
- Prognostic Information: Helps predict disease progression and severity
- Family Planning: Enables informed reproductive decisions
- Personalized Treatment: Guides targeted therapeutic interventions
- Genetic Counseling: Supports comprehensive family risk assessment
- Early Intervention: Facilitates timely management strategies
Understanding Your Test Results
Your MPZ gene sequencing results will be carefully interpreted by our team of genetic specialists:
- Positive Result: Indicates the presence of a pathogenic MPZ mutation confirming CMT diagnosis
- Negative Result: Suggests absence of detectable MPZ mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines inheritance patterns for family members
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $750 |
| Regular Price | $1000 |
Nationwide Testing Availability
General Genetics Corporation provides comprehensive MPZ 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, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Sample Collection and Processing
This test requires specific sample types collected under proper medical supervision:
- Primary Sample: Peripheral blood in EDTA Vacutainer (2ml)
- Alternative Samples: Amniotic Fluid, Chorionic Villi, or Cord Blood
- Collection Containers: Sterile container with Normal Saline
- Turnaround Time: 3-4 weeks from sample receipt
Important Pre-Test Information
MPZ Full Length Gene Sequence Analysis for Charcot-Marie-Tooth Disease requires a physician’s prescription for most cases. Prescription requirements do not apply to surgical cases, pregnancy-related testing, or individuals planning international travel. Our genetic counseling team is available to discuss testing indications and implications with both patients and referring physicians.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. Our MPZ Full Length Gene Sequence Analysis provides the genetic clarity needed for informed medical decisions and comprehensive care planning. With advanced Sanger sequencing technology and expert genetic interpretation, you can trust General Genetics Corporation for accurate, reliable results.
Ready to schedule your genetic test? Call our dedicated patient services team at +1(267) 388-9828 or book your appointment online today. Take the first step toward understanding your genetic health with confidence and precision.
