MPZ Gene CMT2I NGS Genetic DNA Test
Comprehensive Genetic Testing for Charcot-Marie-Tooth Disease Type 2I
The MPZ Gene CMT2I NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations in the myelin protein zero (MPZ) gene associated with Charcot-Marie-Tooth disease type 2I. This advanced testing methodology provides crucial insights for patients and families affected by this inherited peripheral neuropathy.
What Does This Test Measure and Detect?
This sophisticated genetic analysis specifically targets the MPZ gene, which encodes myelin protein zero – a critical component of the peripheral nervous system’s myelin sheath. The test utilizes Next-Generation Sequencing (NGS) technology to identify:
- Point mutations in the MPZ gene coding regions
- Small insertions and deletions affecting gene function
- Specific genetic variants known to cause CMT2I
- Novel mutations that may contribute to disease development
The comprehensive analysis covers all six exons of the MPZ gene, ensuring thorough evaluation of potential pathogenic variants that disrupt normal myelin formation and nerve conduction.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing symptoms suggestive of Charcot-Marie-Tooth disease or those with a family history of neurological disorders. Key indications include:
- Progressive muscle weakness in feet and hands
- Foot deformities such as high arches or hammertoes
- Difficulty with balance and coordination
- Reduced sensation in extremities
- Family history of peripheral neuropathy
- Unexplained muscle atrophy in lower limbs
- Delayed motor development in children
- Sensory abnormalities including numbness or tingling
Significant Benefits of MPZ Gene Testing
Undergoing the MPZ Gene CMT2I NGS Genetic DNA Test offers multiple advantages for patients and healthcare providers:
- Definitive Diagnosis: Provides conclusive genetic evidence for CMT2I, eliminating diagnostic uncertainty
- Personalized Treatment Planning: Enables targeted interventions and management strategies based on specific genetic findings
- Family Risk Assessment: Identifies at-risk family members who may benefit from early intervention
- Reproductive Planning: Offers crucial information for family planning decisions and prenatal testing options
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to ongoing scientific understanding of CMT disorders
Understanding Your Test Results
Our comprehensive genetic counseling services ensure you fully understand your test results and their implications:
- Positive Result: Indicates the presence of a pathogenic MPZ gene mutation associated with CMT2I. Our genetic counselors will explain inheritance patterns and provide guidance on management options.
- Negative Result: Suggests no detectable MPZ mutations, though other genetic or non-genetic causes of neuropathy may need consideration.
- Variant of Uncertain Significance: Some genetic changes may have unknown clinical significance, requiring further evaluation and family studies.
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but may not show symptoms.
Test Pricing and Sample Requirements
| Test Component | Details |
|---|---|
| Test Name | MPZ Gene CMT2I NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Pre-test Requirements | Clinical History and Genetic Counseling Session |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic counselors and neurological specialists ensures you receive comprehensive care 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 CMT2I NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take control of your neurological health with definitive genetic testing from America’s leading genetics laboratory.
