CLCN4 Gene Raynaud-Claes Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The CLCN4 Gene Raynaud-Claes Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations responsible for Raynaud-Claes syndrome. This rare X-linked disorder affects neurological development and function, making accurate genetic testing essential for proper diagnosis and management.
What This Advanced Test Detects
Our comprehensive NGS-based test specifically targets the CLCN4 gene, which encodes the chloride channel protein CIC-4. Mutations in this gene disrupt normal chloride ion transport in neuronal cells, leading to the characteristic symptoms of Raynaud-Claes syndrome. The test identifies:
- Point mutations in the CLCN4 gene coding regions
- Small insertions and deletions affecting gene function
- Copy number variations impacting gene dosage
- Regulatory region mutations affecting gene expression
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained intellectual disability or developmental delays
- Speech and language impairments without clear cause
- Behavioral abnormalities including autism spectrum features
- Family history of X-linked neurological disorders
- Multiple affected male relatives with similar symptoms
- Unexplained seizures or movement disorders
- Developmental regression in early childhood
Significant Benefits of Genetic Testing
Undergoing the CLCN4 Gene Raynaud-Claes Syndrome test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Raynaud-Claes syndrome with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely support services and educational planning
- Prognostic Information: Helps understand potential disease progression and outcomes
- Research Contribution: Advances scientific understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of a CLCN4 gene mutation associated with Raynaud-Claes syndrome. Our genetic counselors will explain the implications and next steps.
- Negative Result: Suggests no detectable mutation in the CLCN4 gene, though other genetic causes may need investigation.
- Variant of Uncertain Significance: Some genetic changes require additional family studies or research to determine clinical significance.
- Carrier Status: Identifies individuals who carry the mutation but may not show symptoms, important for family planning.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
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, San Jose, and many more. Our network of certified genetic counselors and neurologists ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Answers
Don’t let uncertainty about neurological symptoms delay your path to answers. Our experienced team of genetic specialists and neurologists is ready to help you understand your genetic health and make informed decisions about your care.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your CLCN4 Gene Raynaud-Claes Syndrome NGS Genetic DNA Test. Our compassionate staff will guide you through the testing process, answer your questions, and help you access the genetic insights you need for better health outcomes.
Early genetic testing can provide clarity, guide treatment decisions, and offer peace of mind for you and your family. Contact us now to begin your journey toward genetic understanding and personalized medical care.
