SIX5 Gene Branchiootorenal Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Branchiootorenal Syndrome
The SIX5 Gene Branchiootorenal Syndrome Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Branchiootorenal (BOR) syndrome type 2. This hereditary condition affects multiple body systems, primarily involving hearing structures, kidney development, and branchial arch derivatives. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting genetic variations that traditional testing methods might miss.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the SIX5 gene, which plays a crucial role in embryonic development and tissue differentiation. The test identifies:
- Point mutations and small insertions/deletions in the SIX5 gene
- Pathogenic variants associated with BOR syndrome type 2
- Genetic markers linked to hearing impairment and renal abnormalities
- Inheritance patterns for family planning considerations
- Risk assessment for future generations
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Hearing Loss: Congenital or progressive sensorineural hearing impairment
- Branchial Arch Anomalies: Preauricular pits, tags, or branchial cleft cysts
- Renal Abnormalities: Structural kidney defects or renal dysplasia
- Family History: Known BOR syndrome in family members
- Developmental Concerns: Multiple congenital anomalies involving ear, kidney, or neck structures
- Unexplained Symptoms: When standard diagnostic approaches have been inconclusive
Significant Benefits of SIX5 Genetic Testing
Choosing our SIX5 Gene Branchiootorenal Syndrome Type 2 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Precise identification of genetic causes for complex symptoms
- Family Planning Guidance: Clear understanding of inheritance risks for future children
- Personalized Medical Management: Tailored treatment approaches based on genetic findings
- Early Intervention: Opportunity for proactive management of potential complications
- Peace of Mind: Resolution of diagnostic uncertainty and clear path forward
- Comprehensive Analysis: Advanced NGS technology ensures thorough genetic evaluation
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic SIX5 gene mutation, confirming BOR syndrome type 2 diagnosis
- Negative Result: Suggests that SIX5 gene mutations were not detected, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if you carry a single copy of the mutation without showing symptoms
All results include detailed explanations and recommendations for next steps, including referrals to appropriate specialists for comprehensive care management.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
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. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of your location.
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to develop comprehensive family pedigree
- Documentation of affected family members with similar symptoms
- Review of previous diagnostic tests and medical records
Our genetic counseling team works closely with you to gather all necessary information and provide comprehensive pre-test education.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our SIX5 Gene Branchiootorenal Syndrome Type 2 NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. With our advanced NGS technology and expert genetic analysis, you can trust in accurate results and comprehensive support throughout your diagnostic journey.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your family’s future.
