SPRED1 Gene Neurofibromatosis Type 1-Like Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Legius Syndrome
The SPRED1 Gene Neurofibromatosis Type 1-Like Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals and families affected by Legius syndrome. This sophisticated testing methodology utilizes Next-Generation Sequencing (NGS) technology to provide unparalleled accuracy in detecting mutations within the SPRED1 gene, which plays a crucial role in the RAS-MAPK signaling pathway. Early and accurate diagnosis through this test enables healthcare providers to implement appropriate management strategies and provide accurate genetic counseling for affected families.
What Does the SPRED1 Gene Test Measure?
Our advanced NGS-based test specifically targets and analyzes the SPRED1 gene for pathogenic variants that cause Legius syndrome. The test provides comprehensive coverage of:
- Complete sequencing of the SPRED1 gene coding regions
- Detection of point mutations, small insertions, and deletions
- Identification of splice site variants affecting gene function
- Comprehensive analysis of all known pathogenic variants
- High-resolution detection of novel mutations
Who Should Consider SPRED1 Genetic Testing?
Clinical Indications and Symptoms
This test is particularly recommended for individuals presenting with the following clinical features:
- Multiple café-au-lait macules (typically 6 or more measuring >5 mm in children or >15 mm in adults)
- Axillary or inguinal freckling without neurofibromas
- Family history suggestive of autosomal dominant inheritance pattern
- Individuals with NF1-like features but lacking Lisch nodules or neurofibromas
- Children with learning disabilities or macrocephaly alongside skin manifestations
- Patients with no evidence of NF1 gene mutations but persistent clinical suspicion
Key Benefits of SPRED1 Genetic Testing
Choosing our SPRED1 Gene NGS Test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Differentiate between Legius syndrome and Neurofibromatosis Type 1 with 99.9% accuracy
- Family Planning Guidance: Provide accurate recurrence risk information for future pregnancies
- Personalized Management: Tailor medical surveillance and interventions based on genetic findings
- Early Intervention: Identify at-risk family members before symptom development
- Psychological Relief: Reduce uncertainty and provide clear diagnostic answers
- Research Contribution: Contribute to ongoing understanding of RASopathies and their management
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic counseling support helps you understand your SPRED1 test results:
- Positive Result: Identification of a pathogenic SPRED1 variant confirms Legius syndrome diagnosis and enables appropriate medical management
- Negative Result: No SPRED1 mutation detected, though clinical follow-up may still be warranted for persistent symptoms
- Variant of Uncertain Significance (VUS): Requires additional family studies and clinical correlation for proper interpretation
- Carrier Status: Important information for family planning and genetic counseling
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | SPRED1 Gene Neurofibromatosis Type 1-Like 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 Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee. Our network of certified genetic counselors and healthcare professionals ensures consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our SPRED1 Gene Neurofibromatosis Type 1-Like Syndrome NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our special discounted price of only $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing without financial burden.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to guide you through every step of the testing process and help you understand your genetic health.
