SNAP29 Gene Cerebral Dysgenesis Neuropathy Ichthyosis Palmoplantar Keratoderma Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Neurological and Dermatological Disorders
The SNAP29 Gene Cerebral Dysgenesis Neuropathy Ichthyosis Palmoplantar Keratoderma Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the SNAP29 gene, which plays a critical role in cellular membrane fusion and neurotransmitter release. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide accurate detection of pathogenic variants associated with this complex multisystem disorder.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the SNAP29 gene, which encodes a protein essential for proper synaptic function and cellular membrane dynamics. The test detects:
- Pathogenic mutations in the SNAP29 gene associated with cerebral dysgenesis
- Genetic variants linked to peripheral neuropathy development
- Mutations causing ichthyosis and palmoplantar keratoderma
- Both inherited and de novo genetic alterations
- Single nucleotide variants, insertions, deletions, and copy number variations
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following symptoms or clinical indications:
- Infants and children with developmental delays and cerebral malformations
- Patients exhibiting neurological symptoms including neuropathy and seizures
- Individuals with congenital ichthyosis or severe skin scaling
- Those presenting with palmoplantar keratoderma (thickened skin on palms and soles)
- Family members of individuals diagnosed with SNAP29-related disorders
- Couples with family history planning pregnancy
- Patients with unexplained multisystem involvement affecting brain, nerves, and skin
Key Benefits of SNAP29 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out SNAP29-related disorders with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for reproductive decision-making
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies for better outcomes
- Genetic Counseling: Supports informed discussions about inheritance patterns
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic SNAP29 mutations, confirming diagnosis and guiding management
- Negative Result: Suggests absence of detectable SNAP29 mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | SNAP29 Gene Cerebral Dysgenesis Neuropathy Ichthyosis Palmoplantar Keratoderma Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Accessibility
We have conveniently located branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent quality and reliable results nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our expert genetic counselors and medical professionals are ready to guide you through the testing process and help you understand your results. Schedule your SNAP29 genetic test today to gain valuable insights into your genetic health.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or discuss your testing options with our genetic specialists.
Early genetic diagnosis can make a significant difference in managing complex neurological and dermatological conditions. Trust our expertise in genetic testing to provide the answers you need for informed healthcare decisions.
