MPZ Gene CMT4E NGS Genetic DNA Test
Comprehensive Genetic Testing for Charcot-Marie-Tooth Disease Type 4E
The MPZ Gene CMT4E NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with Charcot-Marie-Tooth disease type 4E. This inherited peripheral neuropathy affects the peripheral nerves that control muscle movement and sensation in the arms and legs. Our advanced testing methodology provides comprehensive analysis of the MPZ (myelin protein zero) gene, which plays a critical role in maintaining the structural integrity of myelin sheaths surrounding nerve fibers.
What Does This Test Measure and Detect?
This sophisticated genetic test utilizes next-generation sequencing (NGS) technology to examine the entire coding region of the MPZ gene for pathogenic variants. The test specifically identifies:
- Point mutations affecting myelin protein zero function
- Deletion and duplication variants in the MPZ gene
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
- Autosomal recessive inheritance patterns characteristic of CMT4E
The MPZ gene encodes myelin protein zero, the most abundant protein in peripheral nerve myelin. Mutations in this gene disrupt the normal structure and function of myelin, leading to impaired nerve conduction and the characteristic symptoms of CMT4E.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with symptoms suggestive of Charcot-Marie-Tooth disease or those with a family history of neurological disorders. Key indications include:
- Progressive muscle weakness in the feet and hands
- Foot deformities such as high arches or hammertoes
- Decreased sensation in the extremities
- Difficulty walking or frequent tripping
- Family history of peripheral neuropathy
- Early-onset neurological symptoms in childhood
- Progressive sensory loss and muscle atrophy
- Abnormal nerve conduction study results
Significant Benefits of MPZ Gene Testing
Undergoing the MPZ Gene CMT4E NGS Genetic DNA Test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out CMT4E with high precision
- Family Planning Guidance: Provides crucial information for genetic counseling
- Personalized Treatment: Enables targeted management strategies
- Early Intervention: Facilitates timely therapeutic approaches
- Prognostic Information: Helps predict disease progression
- Genetic Counseling: Supports informed decision-making for family members
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your MPZ gene test results effectively:
- Positive Result: Indicates the presence of pathogenic MPZ gene mutations associated with CMT4E. This confirms the diagnosis and provides valuable information for disease management and family planning.
- Negative Result: Suggests that no disease-causing mutations were detected in the MPZ gene. However, this does not completely rule out other forms of Charcot-Marie-Tooth disease.
- Variant of Uncertain Significance: Some genetic changes may have unknown clinical implications. Our genetic counselors provide guidance on monitoring and further evaluation.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| MPZ Gene CMT4E NGS Genetic DNA Test – Discount Price | $500 |
| MPZ Gene CMT4E NGS Genetic DNA Test – Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before undergoing the MPZ Gene CMT4E NGS Genetic DNA Test, patients should provide:
- Complete clinical history documenting neurological symptoms
- Participation in a genetic counseling session
- Detailed pedigree chart of family members affected by neurological conditions
- Relevant medical records and previous test results
Nationwide Testing Availability
We have conveniently located branches across the United States, serving 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 genetic testing facilities ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. The MPZ Gene CMT4E NGS Genetic DNA Test provides definitive answers and empowers you with knowledge about your genetic health. Our team of genetic specialists and neurologists is ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your MPZ gene test. Take control of your neurological health with comprehensive genetic testing from America’s trusted genetics laboratory.
