PLA2G6 Gene Infantile Neuroaxonal Dystrophy Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The PLA2G6 Gene Infantile Neuroaxonal Dystrophy Type 1 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing method utilizes Next-Generation Sequencing (NGS) technology to identify mutations in the PLA2G6 gene, which are responsible for causing Infantile Neuroaxonal Dystrophy Type 1 (INAD1). This rare, progressive neurodegenerative disorder primarily affects infants and young children, making early and accurate diagnosis crucial for proper management and care planning.
What This Test Measures and Detects
This comprehensive genetic test specifically targets the PLA2G6 gene, which encodes the calcium-independent phospholipase A2 enzyme. The test detects:
- Point mutations, deletions, and insertions in the PLA2G6 gene
- Pathogenic variants associated with INAD1 development
- Both homozygous and compound heterozygous mutations
- Novel genetic variants through comprehensive sequencing analysis
Who Should Consider This Test
This genetic test is recommended for individuals presenting with the following symptoms or clinical indications:
- Infants and young children showing developmental regression
- Progressive loss of motor skills and coordination
- Muscle weakness and hypotonia (low muscle tone)
- Visual impairment or optic atrophy
- Spasticity and pyramidal tract signs
- Family history of neuroaxonal dystrophy or similar neurological conditions
- Unexplained neurological deterioration in early childhood
Key Benefits of PLA2G6 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early and Accurate Diagnosis: Enables precise identification of INAD1, allowing for timely intervention
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care Planning: Helps healthcare providers develop targeted management strategies
- Prognostic Information: Offers insights into disease progression and expected clinical course
- Research Contribution: Advances scientific understanding of neuroaxonal dystrophies
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic PLA2G6 mutations, confirming INAD1 diagnosis
- Negative Result: Suggests absence of known PLA2G6 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our comprehensive network ensures accessible genetic testing services for families nationwide.
Take Action Today
Don’t wait to get the answers you need for your child’s neurological health. Our team of genetic specialists and neurologists is ready to provide comprehensive testing and counseling services. Contact us today to schedule your PLA2G6 Gene Infantile Neuroaxonal Dystrophy Type 1 NGS Genetic DNA Test and take the first step toward accurate diagnosis and proper management.
Call or WhatsApp: +1(267) 388-9828 to book your test or speak with our genetic counseling team. Early diagnosis can make a significant difference in managing neurological conditions effectively.
