SNAP29 Gene Cerebral Dysgenesis Neuropathy Ichthyosis Palmoplantar Keratoderma Syndrome NGS Genetic DNA Test
Introduction
The SNAP29 Gene Cerebral Dysgenesis Neuropathy Ichthyosis Palmoplantar Keratoderma Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to identify mutations in the SNAP29 gene. This test is vital for patients exhibiting symptoms of cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, providing crucial insights into their genetic makeup and aiding in the diagnosis and management of these complex conditions.
What the Test Measures
This genetic test specifically measures variations in the SNAP29 gene, which is associated with several developmental disorders. By analyzing the patient’s DNA, healthcare professionals can determine the presence of pathogenic variants that may contribute to the observed symptoms.
Who Should Consider This Test
Individuals who should consider the SNAP29 Gene test include:
- Patients with a clinical history of neurological disorders, skin conditions, and dysmorphology.
- Families with a history of genetic disorders related to the SNAP29 gene.
- Individuals exhibiting symptoms such as developmental delays, skin abnormalities, or neurological issues.
Benefits of Taking the Test
Taking the SNAP29 Gene test offers numerous benefits, including:
- Accurate diagnosis of genetic conditions linked to the SNAP29 gene.
- Informed decision-making regarding treatment and management options.
- Understanding the risks for family members and potential future generations.
- Access to genetic counseling for comprehensive support and guidance.
Understanding Your Results
Once the test is completed, results will be provided to you in a clear and understandable format. It is essential to discuss these results with your healthcare provider to understand their implications fully. Genetic counseling can help interpret the findings and guide you on the next steps.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Booking the Test
To book the SNAP29 Gene Cerebral Dysgenesis Neuropathy Ichthyosis Palmoplantar Keratoderma Syndrome NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you in scheduling your appointment and providing any additional information you may need.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The test requires a sample type of blood, extracted DNA, or one drop of blood on an FTA card. Prior to the test, a clinical history of the patient and a genetic counseling session are recommended to discuss the family history related to the SNAP29 gene.
