SPRED1 Gene Neurofibromatosis Type 1-Like Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing 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 neurofibromatosis-like symptoms. This advanced next-generation sequencing test specifically targets the SPRED1 gene, which when mutated, causes Legius syndrome – a distinct genetic condition that mimics neurofibromatosis type 1 but carries different clinical implications and management requirements.
What Does This Test Measure and Detect?
This sophisticated genetic analysis utilizes cutting-edge NGS technology to comprehensively examine the SPRED1 gene for pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the SPRED1 gene
- Novel mutations previously unidentified in clinical databases
The test provides definitive molecular confirmation of Legius syndrome, distinguishing it from true neurofibromatosis type 1, which has significant implications for long-term medical management and surveillance strategies.
Who Should Consider SPRED1 Genetic Testing?
Clinical Indications and Symptoms
This test is particularly recommended for individuals presenting with:
- Multiple café-au-lait macules (typically 6 or more measuring >5mm in children or >15mm in adults)
- Axillary or inguinal freckling without other NF1 features
- Family history suggestive of autosomal dominant inheritance pattern
- Neurofibromatosis-like features but absence of Lisch nodules, neurofibromas, or optic pathway gliomas
- Unexplained learning disabilities or macrocephaly in the context of café-au-lait spots
- Children with pigmentary changes where NF1 diagnosis is uncertain
Clinical Benefits of SPRED1 Genetic Testing
Transformative Diagnostic Clarity
Undergoing SPRED1 genetic testing provides numerous critical benefits:
- Accurate Diagnosis: Differentiate Legius syndrome from neurofibromatosis type 1, preventing misdiagnosis and inappropriate medical management
- Risk Assessment: Understand the specific genetic mutation and its implications for affected individuals and family members
- Family Planning: Make informed reproductive decisions with knowledge of inheritance patterns and recurrence risks
- Personalized Surveillance: Develop appropriate medical monitoring protocols based on accurate genetic diagnosis
- Psychological Relief: Reduce anxiety associated with uncertain diagnosis and provide clarity for future health expectations
- Resource Optimization: Avoid unnecessary medical tests and interventions that would be indicated for NF1 but not for Legius syndrome
Understanding Your Test Results
Comprehensive Genetic Counseling and Interpretation
Our genetic specialists provide detailed explanation of your SPRED1 test results:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic SPRED1 mutation confirming Legius syndrome diagnosis. This result:
- Confirms the genetic basis of observed clinical features
- Provides information for family member testing
- Guides appropriate medical management without NF1-specific tumor surveillance
- Offers recurrence risk information for future pregnancies
Negative Result Interpretation
A negative result suggests that SPRED1 mutations are not responsible for the clinical presentation, indicating:
- Need for further genetic evaluation for other conditions
- Possible NF1 or other genetic syndrome consideration
- Importance of continued clinical monitoring as indicated by symptoms
Variant of Uncertain Significance (VUS)
When a genetic change of unknown clinical significance is identified:
- Ongoing research may clarify the variant’s significance over time
- Clinical correlation with symptoms remains essential
- Family studies may help determine variant pathogenicity
Test Details and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | SPRED1 Gene Neurofibromatosis Type 1-Like Syndrome NGS Genetic DNA Test | – |
| Discount Price | Limited Time Offer | $500 |
| Regular Price | Standard Pricing | $700 |
| Turnaround Time | Comprehensive Analysis | 3-4 Weeks |
| Sample Type | Multiple Options Available | Blood, Extracted DNA, or Blood on FTA Card |
Nationwide Accessibility and Convenient Testing
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, and many more cities. Our network of certified genetic counselors and medical professionals ensures you receive comprehensive pre-test counseling and post-test result interpretation regardless of your location.
Pre-Test Requirements
To ensure the most accurate and meaningful results, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to document family pedigree
- Identification of family members affected with similar symptoms
- Understanding of test implications and potential outcomes
Take Control of Your Genetic Health Today
Don’t let uncertainty about neurofibromatosis-like symptoms impact your quality of life or family planning decisions. Our SPRED1 genetic testing provides the clarity and confidence you need to make informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic diagnostics without financial burden.
Ready to begin your genetic journey? Contact our genetic specialists today at +1(267) 388-9828 or book your consultation online. Take the first step toward genetic clarity and personalized medical management.
Our team of board-certified genetic counselors and medical geneticists are available to discuss your specific situation, answer questions about the testing process, and help you understand how SPRED1 genetic testing can benefit you and your family. With convenient testing locations nationwide and comprehensive support throughout your genetic testing journey, we make advanced genetic diagnostics accessible and understandable.
