SHOC2 Gene Noonan Syndrome-Like NGS Genetic DNA Test
Comprehensive Genetic Analysis for RASopathy Disorders
The SHOC2 Gene Noonan Syndrome-Like NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for individuals suspected of having RASopathy disorders. This advanced genetic test specifically targets the SHOC2 gene, which plays a critical role in the RAS-MAPK signaling pathway – a fundamental cellular communication system that regulates growth, development, and cell division.
What Does This Test Measure?
Our state-of-the-art NGS technology comprehensively analyzes the entire SHOC2 gene to identify pathogenic variants associated with Noonan syndrome-like conditions. The test detects:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the SHOC2 gene
- Specific mutations known to cause RASopathy disorders
The SHOC2 protein functions as a positive regulator of the RAS-MAPK pathway, and mutations in this gene can lead to constitutive activation of this signaling cascade, resulting in the characteristic features of Noonan syndrome-like conditions.
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with the following clinical features:
- Characteristic Facial Features: Hypertelorism, down-slanting palpebral fissures, low-set ears, and webbed neck
- Cardiac Abnormalities: Congenital heart defects, particularly pulmonary valve stenosis and hypertrophic cardiomyopathy
- Growth Concerns: Short stature, failure to thrive, or delayed growth patterns
- Developmental Delays: Cognitive impairments, learning disabilities, or delayed motor milestones
- Family History: Individuals with family members diagnosed with Noonan syndrome or related RASopathies
- Unexplained Dysmorphology: Multiple congenital anomalies without clear diagnosis
Benefits of SHOC2 Genetic Testing
Comprehensive Diagnostic Advantages
Undergoing the SHOC2 Gene Noonan Syndrome-Like NGS Genetic DNA Test provides numerous clinical benefits:
- Accurate Diagnosis: Confirms or rules out SHOC2-related disorders with high precision
- Personalized Management: Enables targeted medical care based on specific genetic findings
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of appropriate therapies and monitoring
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of RASopathy disorders and treatment development
Understanding Your Test Results
Interpretation Guidance
Your genetic test results will be carefully analyzed and interpreted by our team of certified genetic counselors and clinical geneticists:
- Positive Result: Identification of a pathogenic SHOC2 variant confirms diagnosis and guides specific management strategies
- Negative Result: Absence of detectable SHOC2 mutations may suggest alternative diagnoses or different genetic causes
- Variant of Uncertain Significance (VUS): Some genetic changes require additional family studies or research correlation
- Comprehensive Report: Detailed findings with clinical correlations and management recommendations
All results include genetic counseling sessions to ensure proper understanding and appropriate next steps for medical management.
Test Details and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | SHOC2 Gene Noonan Syndrome-Like NGS Genetic DNA Test | – |
| Discount Price | Special promotional rate | $500 |
| Regular Price | Standard testing fee | $700 |
| Turnaround Time | Comprehensive analysis period | 3-4 Weeks |
| Sample Type | Multiple collection options available | Blood, Extracted DNA, or Blood on FTA Card |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Informed consent for genetic testing
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, and San Jose. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our SHOC2 Gene Noonan Syndrome-Like NGS Genetic DNA Test provides the answers you need for informed medical decisions and personalized care planning.
Call 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 for better health outcomes.
Early genetic diagnosis can make a significant difference in managing RASopathy disorders and improving quality of life. Trust the experts at General Genetics Corporation for accurate, reliable genetic testing you can depend on.
