SOS1 Gene Noonan Syndrome Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Noonan Syndrome
The SOS1 Gene Noonan Syndrome Type 4 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals and families affected by Noonan syndrome. This sophisticated genetic analysis utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the SOS1 gene, which plays a critical role in the RAS/MAPK signaling pathway essential for normal cell growth and development.
What This Test Measures and Detects
This comprehensive genetic test specifically targets and analyzes the SOS1 gene for pathogenic variants associated with Noonan syndrome type 4. The test identifies:
- Point mutations in the SOS1 gene coding regions
- Small insertions and deletions affecting gene function
- Missense mutations that alter protein structure
- Genetic variations impacting the RAS/MAPK signaling pathway
- Inherited and de novo mutations causing Noonan syndrome
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with clinical features suggestive of Noonan syndrome, including:
Clinical Indications and Symptoms
- Characteristic facial features (hypertelorism, down-slanting eyes, low-set ears)
- Congenital heart defects, particularly pulmonary valve stenosis
- Short stature and growth delays
- Developmental delays or learning disabilities
- Feeding difficulties in infancy
- Bleeding tendencies or coagulation abnormalities
- Family history of Noonan syndrome or similar conditions
- Unexplained cardiac abnormalities in children
Benefits of SOS1 Genetic Testing
Undergoing the SOS1 Gene Noonan Syndrome Type 4 NGS Genetic DNA Test provides numerous advantages for patients and families:
Medical and Personal Benefits
- Accurate Diagnosis: Confirms or rules out Noonan syndrome type 4 with high precision
- Early Intervention: Enables timely management of cardiac and developmental issues
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted treatment approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Peace of Mind: Reduces diagnostic uncertainty and provides clarity for medical management
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your SOS1 gene test results:
Result Interpretation Guidance
- Positive Result: Indicates a pathogenic mutation in the SOS1 gene confirming Noonan syndrome type 4 diagnosis
- Negative Result: Suggests no mutation detected in the SOS1 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines inheritance patterns and recurrence risks for family members
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | SOS1 Gene Noonan Syndrome Type 4 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 |
| Specialty | Pediatric Genetics |
Pre-Test Requirements
Before undergoing the SOS1 Gene Noonan Syndrome Type 4 NGS Genetic DNA Test, patients should provide:
- Complete clinical history of the individual being tested
- Participation in a genetic counseling session
- Development of a detailed pedigree chart documenting family members affected by similar conditions
- Informed consent for genetic testing
Nationwide Testing Availability
We proudly offer the SOS1 Gene Noonan Syndrome Type 4 NGS Genetic DNA Test across the United States through our extensive network of testing facilities. Our branches serve major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other cities nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s health and future. The SOS1 Gene Noonan Syndrome Type 4 NGS Genetic DNA Test provides the definitive answers you need for proper medical management and family planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate genetic specialists are ready to guide you through every step of the testing process and help you understand your results.
Early genetic diagnosis through advanced NGS technology can make a significant difference in managing Noonan syndrome and improving quality of life. Take control of your genetic health today with our comprehensive SOS1 gene testing services.
