BRAF Gene LEOPARD Syndrome Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for LEOPARD Syndrome
The BRAF Gene LEOPARD Syndrome Type 3 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the BRAF gene responsible for LEOPARD syndrome, a rare autosomal dominant disorder also known as Noonan syndrome with multiple lentigines. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide accurate, reliable results essential for proper diagnosis and management of this complex condition.
What Does This Test Measure?
This advanced genetic test specifically targets and analyzes the BRAF gene for pathogenic variants associated with LEOPARD syndrome type 3. The test employs sophisticated NGS methodology to detect:
- Point mutations in the BRAF gene coding regions
- Small insertions and deletions affecting protein function
- Missense mutations that disrupt normal cellular signaling
- Genetic variations impacting the RAS/MAPK signaling pathway
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with clinical features suggestive of LEOPARD syndrome, including:
- Multiple lentigines (dark skin spots) appearing in childhood
- Electrocardiographic conduction abnormalities
- Ocular hypertelorism (widely spaced eyes)
- Pulmonary valve stenosis or other cardiac defects
- Abnormalities of genital development
- Growth retardation and delayed development
- Sensorineural hearing loss
- Family history of similar symptoms
Clinical Benefits of Genetic Testing
Undergoing the BRAF Gene LEOPARD Syndrome Type 3 test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out LEOPARD syndrome with high precision
- Personalized Management: Enables targeted treatment approaches based on genetic findings
- Family Planning: Provides crucial information for reproductive decision-making
- Early Intervention: Facilitates timely medical care and monitoring
- Genetic Counseling: Supports informed family discussions about inheritance patterns
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and presented with comprehensive guidance:
- Positive Result: Indicates the presence of a pathogenic BRAF mutation, confirming LEOPARD syndrome diagnosis
- Negative Result: Suggests absence of known BRAF mutations, though clinical evaluation remains important
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
All results include detailed explanations and recommendations for next steps, including consultation with genetic specialists and appropriate medical follow-up.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Book Your Genetic Test Today
Take the first step toward accurate diagnosis and personalized care. Our genetic counseling team is available to discuss your testing options and provide comprehensive pre-test guidance. Contact us today to schedule your BRAF Gene LEOPARD Syndrome Type 3 NGS Genetic DNA Test.
Call or WhatsApp: +1(267) 388-9828
Our dedicated genetic specialists will guide you through the testing process, from sample collection to result interpretation, ensuring you receive the comprehensive care and support you deserve.
