CRLF1 Gene Cold-Induced Sweating Syndrome NGS Genetic DNA Test
Understanding CRLF1 Gene Cold-Induced Sweating Syndrome
CRLF1 Gene Cold-Induced Sweating Syndrome is a rare autosomal recessive genetic disorder characterized by abnormal sweating triggered by cold temperatures. This condition, also known as Crisponi syndrome, results from mutations in the CRLF1 gene, which plays a crucial role in cytokine receptor signaling and temperature regulation pathways. The syndrome typically presents in infancy with distinctive facial features, temperature-dependent sweating episodes, and potential developmental challenges.
What Does This Genetic Test Measure?
Our advanced NGS Genetic DNA Test specifically targets the CRLF1 gene to identify pathogenic variants responsible for cold-induced sweating syndrome. The test comprehensively analyzes:
- Complete CRLF1 gene sequencing using Next-Generation Sequencing technology
- Detection of point mutations, insertions, and deletions
- Identification of known pathogenic variants associated with the syndrome
- Assessment of variant pathogenicity and clinical significance
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with the following symptoms and clinical indications:
- Infants and children with abnormal sweating episodes triggered by cold exposure
- Patients with distinctive facial features including broad nasal bridge, anteverted nostrils, and long philtrum
- Individuals with feeding difficulties and muscle contractures in infancy
- Patients with temperature regulation abnormalities and hyperthermia episodes
- Family members of individuals diagnosed with CRLF1-related disorders
- Cases where clinical suspicion of Crisponi syndrome exists
Clinical Benefits of CRLF1 Genetic Testing
Undergoing CRLF1 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out CRLF1-related cold-induced sweating syndrome
- Personalized Management: Enables targeted treatment approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of appropriate medical care
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Your CRLF1 genetic test results will be carefully interpreted by our board-certified genetic specialists:
- Positive Result: Indicates the presence of pathogenic CRLF1 mutations confirming the diagnosis
- Negative Result: Suggests absence of known CRLF1 mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals carrying one copy of the mutated gene
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing and Details
| Test Component | Price (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 |
Pre-Test Requirements
Before undergoing the CRLF1 genetic test, patients should provide:
- Complete clinical history documenting symptoms and family background
- Genetic counseling session to create detailed pedigree chart
- Documentation of affected family members and their symptoms
- Clinical photographs when available for dysmorphology assessment
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 testing facilities ensures accessible, high-quality care for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about CRLF1-related conditions impact your health decisions. Our specialized genetic testing provides the answers you need for proper diagnosis and management. With advanced NGS technology and expert genetic analysis, we deliver reliable results you can trust.
Ready to schedule your CRLF1 Genetic DNA Test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Take control of your genetic health today – schedule your comprehensive CRLF1 genetic analysis and gain the clarity needed for informed medical decisions and improved quality of life.
