PLEKHG5 Gene Spinal Muscular Atrophy Distal Autosomal Recessive Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The PLEKHG5 Gene Spinal Muscular Atrophy Distal Autosomal Recessive Type 4 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the PLEKHG5 gene, which plays a critical role in neuronal development and function. Spinal muscular atrophy distal autosomal recessive type 4 is a rare neuromuscular disorder characterized by progressive muscle weakness affecting the distal limbs, typically beginning in childhood or early adulthood.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the PLEKHG5 gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Pathogenic variants associated with distal SMA type 4
- Autosomal recessive inheritance patterns
The test provides detailed genetic information that helps confirm diagnosis, assess disease progression risk, and guide appropriate medical management strategies.
Who Should Consider This Genetic Test
This test is recommended for individuals experiencing:
- Progressive muscle weakness in hands and feet
- Difficulty with fine motor skills and coordination
- Gait abnormalities and walking difficulties
- Muscle atrophy in distal limbs
- Family history of neuromuscular disorders
- Unexplained neurological symptoms in childhood or adulthood
- Previous inconclusive neurological evaluations
Clinical Benefits of PLEKHG5 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out distal spinal muscular atrophy type 4
- Early Intervention: Enables timely treatment and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides appropriate neurological treatment plans
- Prognostic Information: Helps understand potential disease progression
- Research Contribution: Advances understanding of rare neurological conditions
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates presence of pathogenic PLEKHG5 mutations confirming diagnosis
- Negative Result: Suggests absence of tested mutations but doesn’t rule out other causes
- Variant of Uncertain Significance: Requires further evaluation and family studies
- Carrier Status: Identifies individuals who may pass the condition to offspring
All results include detailed explanations and recommendations for next steps, including consultation with neurologists and genetic counselors.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | PLEKHG5 Gene Spinal Muscular Atrophy Distal Autosomal Recessive Type 4 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 |
Nationwide Testing Availability
We have branches across the United States, making genetic testing accessible in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and neurological specialists ensures you receive comprehensive support throughout the testing process.
Pre-Test Requirements
Before scheduling your test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential results and their impact
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our PLEKHG5 genetic test provides the clarity needed for proper diagnosis and treatment planning. With our discounted price of $500 USD and comprehensive support services, you can access advanced genetic testing without financial burden.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Take the first step toward understanding your neurological health and making informed decisions about your care.
