DYNC1H1 Gene Charcot-Marie-Tooth Disease Axonal Type 20 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Peripheral Neuropathy
The DYNC1H1 Gene Charcot-Marie-Tooth Disease Axonal Type 20 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the DYNC1H1 gene, which plays a critical role in intracellular transport within nerve cells. When this gene malfunctions, it disrupts the essential movement of cellular components along nerve axons, leading to progressive degeneration of peripheral nerves.
What This Revolutionary Test Detects
Our comprehensive NGS-based analysis examines the entire DYNC1H1 gene sequence to identify pathogenic variants responsible for axonal Charcot-Marie-Tooth disease type 20. The test specifically detects:
- Point mutations affecting dynein motor protein function
- Frameshift mutations disrupting cytoplasmic dynein assembly
- Missense variants impacting microtubule binding capabilities
- Nonsense mutations leading to truncated protein production
- Splice site variants affecting mRNA processing
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals experiencing symptoms suggestive of inherited peripheral neuropathy or those with family history of neurological conditions. Key indications include:
Symptoms and Clinical Presentations
- Progressive muscle weakness beginning in feet and hands
- Foot deformities including high arches (pes cavus) and hammertoes
- Reduced sensation to touch, temperature, and vibration
- Difficulty with fine motor skills and coordination
- Muscle atrophy in lower legs creating “stork leg” appearance
- Decreased or absent deep tendon reflexes
- Family history of similar neurological symptoms
- Early-onset peripheral neuropathy without clear cause
Significant Benefits of Genetic Testing
Undergoing the DYNC1H1 genetic test provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out genetic cause of symptoms
- Personalized Treatment: Enables targeted management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Early Intervention: Allows proactive management before significant disability
- Genetic Counseling: Offers comprehensive family risk assessment
- Research Participation: Opportunity to contribute to neurological research
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the DYNC1H1 gene. This confirms the genetic diagnosis of Charcot-Marie-Tooth disease axonal type 20. Our genetic counselors will provide detailed explanations about:
- Specific mutation type and its functional consequences
- Expected disease progression and prognosis
- Management recommendations from neurologists
- Family testing options and inheritance patterns
Negative Result Interpretation
A negative result means no pathogenic mutations were detected in the DYNC1H1 gene. However, this doesn’t completely rule out genetic causes, as other genes may be involved. Further testing may be recommended based on clinical presentation.
Test Details and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | DYNC1H1 Gene Charcot-Marie-Tooth Disease Axonal Type 20 NGS Genetic DNA Test | – |
| Discount Price | Limited Time Offer | $500 |
| Regular Price | Standard Rate | $700 |
| Turnaround Time | Comprehensive Analysis | 3-4 Weeks |
| Sample Type | Multiple Options Available | Blood, Extracted DNA, or FTA Card |
Nationwide Testing Availability
We proudly offer this advanced genetic testing service across the United States with convenient locations in all major metropolitan areas. Our state-of-the-art facilities in New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose ensure accessible genetic testing for patients nationwide.
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our comprehensive DYNC1H1 genetic test provides the clarity needed for informed medical decisions and personalized care planning. With genetic counseling included and results delivered within 3-4 weeks, you can take proactive steps toward managing your neurological health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Our specialized team is ready to guide you through every step of the process with compassion and expertise.
