BBS4 Gene Bardet-Biedl Syndrome Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Multisystem Disorders
The BBS4 Gene Bardet-Biedl Syndrome Type 4 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the BBS4 gene, which is associated with Bardet-Biedl syndrome type 4. This rare autosomal recessive disorder affects multiple organ systems and requires specialized genetic analysis for accurate diagnosis and management.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically targets the BBS4 gene located on chromosome 15, which encodes a protein crucial for proper ciliary function and intracellular transport. The test identifies:
- Point mutations and small insertions/deletions in the BBS4 gene
- Pathogenic variants associated with Bardet-Biedl syndrome type 4
- Novel mutations that may contribute to disease manifestation
- Carrier status for family members and genetic counseling purposes
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of Bardet-Biedl syndrome, including:
- Progressive vision loss or retinal dystrophy beginning in childhood
- Early-onset obesity and metabolic abnormalities
- Renal abnormalities or kidney dysfunction
- Polydactyly (extra fingers or toes)
- Developmental delays or learning disabilities
- Hypogonadism or reproductive system abnormalities
- Family history of Bardet-Biedl syndrome or similar disorders
Key Benefits of BBS4 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out Bardet-Biedl syndrome type 4 with high accuracy
- Early Intervention: Enables proactive management of associated complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted treatment strategies based on specific genetic findings
- Research Contribution: Helps advance understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your BBS4 gene analysis:
- Positive Result: Indicates the presence of pathogenic mutations in the BBS4 gene, confirming Bardet-Biedl syndrome type 4 diagnosis
- Negative Result: Suggests no disease-causing mutations were detected in the BBS4 gene
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
All results include detailed clinical interpretation and recommendations for follow-up care with our genetic counseling team.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
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, San Jose, and many more cities. Our network of certified collection centers ensures easy access to advanced genetic diagnostics regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our BBS4 Gene Bardet-Biedl Syndrome Type 4 NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With rapid turnaround times of 3-4 weeks and simple sample collection procedures, obtaining definitive genetic answers has never been more accessible.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Our experienced genetic counselors are available to answer your questions and guide you through the testing process.
Early genetic diagnosis can significantly impact treatment outcomes and quality of life for individuals with Bardet-Biedl syndrome. Take the first step toward comprehensive genetic understanding and personalized medical management by booking your test today.
