GDAP1 Gene CMT2K NGS Genetic DNA Test
Comprehensive Genetic Testing for Charcot-Marie-Tooth Disease Type 2K
The GDAP1 Gene CMT2K NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations associated with Charcot-Marie-Tooth disease type 2K. This advanced testing methodology provides crucial insights for patients and families affected by inherited peripheral neuropathies, enabling accurate diagnosis and informed medical decision-making.
What Does This Test Measure and Detect?
This sophisticated genetic analysis specifically targets the GDAP1 (Ganglioside-Induced Differentiation-Associated Protein 1) gene, which plays a critical role in mitochondrial function within peripheral nerves. The test utilizes Next-Generation Sequencing technology to comprehensively examine the entire coding region of the GDAP1 gene, detecting:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
- Autosomal recessive and dominant inheritance patterns
Who Should Consider This Genetic Test?
This test is particularly 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 feet and hands
- Foot deformities such as high arches or hammertoes
- Reduced sensation in extremities
- Difficulty with balance and coordination
- Family history of peripheral neuropathy
- Unexplained progressive walking difficulties
- Sensory loss beginning in childhood or early adulthood
Significant Benefits of GDAP1 Genetic Testing
Undergoing the GDAP1 Gene CMT2K NGS Genetic DNA Test provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out CMT2K with high accuracy
- Family Planning Guidance: Helps understand inheritance risks for future generations
- Personalized Treatment: Enables targeted management strategies
- Prognostic Information: Provides insights into disease progression
- Early Intervention: Facilitates timely therapeutic interventions
- Genetic Counseling: Supports informed reproductive decisions
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information to help you and your healthcare provider understand the findings:
- Positive Result: Indicates the presence of pathogenic GDAP1 mutations, confirming CMT2K diagnosis
- Negative Result: Suggests absence of detectable GDAP1 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if you carry a single copy of a mutated gene
All results are accompanied by detailed interpretation and recommendations for next steps, including referral to neurological specialists and genetic counselors.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| GDAP1 Gene CMT2K NGS Genetic DNA Test – Discount Price | $500 |
| GDAP1 Gene CMT2K NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
GGC DNA maintains comprehensive testing facilities across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Pre-Test Requirements and Sample Collection
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree
- Sample collection options: Blood, Extracted DNA, or One drop Blood on FTA Card
- Turnaround time: 3 to 4 weeks from sample receipt
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. The GDAP1 Gene CMT2K NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. Our team of genetic specialists and neurological experts is ready to support you through every step of the testing process.
Call +1(267) 388-9828 now to schedule your genetic counseling session and book your test. Take the first step toward understanding your genetic health and making informed decisions about your neurological care.
