BRAF Gene Noonan Syndrome Type 7 NGS Genetic DNA Test
Comprehensive Genetic Testing for Noonan Syndrome Type 7
The BRAF Gene Noonan Syndrome Type 7 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the BRAF gene that cause Noonan Syndrome Type 7. This specialized genetic test utilizes advanced Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of the BRAF gene, enabling accurate diagnosis and personalized treatment planning for affected individuals and their families.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets the BRAF gene, which plays a critical role in the RAS/MAPK signaling pathway responsible for cell growth, division, and differentiation. The test detects:
- Pathogenic mutations in the BRAF gene associated with Noonan Syndrome Type 7
- Specific genetic variants that disrupt normal cellular signaling
- Both inherited and de novo (new) mutations
- Various mutation types including missense, nonsense, and frameshift variants
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of Noonan Syndrome Type 7, including:
- Characteristic facial features (wide-set eyes, low-set ears, webbed neck)
- Congenital heart defects, particularly pulmonary valve stenosis
- Growth delays and short stature
- Developmental delays and learning difficulties
- Feeding difficulties in infancy
- Bleeding tendencies or coagulation abnormalities
- Family history of Noonan Syndrome or related conditions
- Unexplained dysmorphic features in pediatric patients
Benefits of BRAF Gene Testing
Undergoing the BRAF Gene Noonan Syndrome Type 7 NGS Genetic DNA Test provides numerous clinical benefits:
- Accurate Diagnosis: Confirms or rules out Noonan Syndrome Type 7 with high precision
- Personalized Treatment: Enables targeted medical management based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of appropriate therapies and monitoring
- Comprehensive Analysis: NGS technology ensures thorough examination of the entire BRAF gene
- Clinical Correlation: Helps establish genotype-phenotype relationships for better prognosis
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists:
- Positive Result: Indicates the presence of a pathogenic BRAF gene mutation consistent with Noonan Syndrome Type 7 diagnosis
- Negative Result: Suggests no detectable mutation in the BRAF gene, though other genetic causes should be considered
- Variant of Uncertain Significance (VUS): Identifies a genetic change whose clinical significance is currently unknown
- Carrier Status: Determines if an individual carries a mutation that could be passed to offspring
All results include detailed interpretation and recommendations for follow-up care, including referral to appropriate specialists and genetic counseling services.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | BRAF Gene Noonan Syndrome Type 7 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 | Pediatrics, Genetics |
| Disease Category | Dysmorphology |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to Noonan Syndrome symptoms
- Participation in a genetic counseling session
- Detailed pedigree chart documenting family members affected by BRAF-related conditions
- Informed consent for genetic testing
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. The BRAF Gene Noonan Syndrome Type 7 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. Our experienced genetic counselors are available to discuss your testing options and answer any questions you may have.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with a genetic specialist. Take control of your genetic health with comprehensive, accurate testing from trusted genetic professionals.
