TTC8 Gene Bardet-Biedl Syndrome Type 8 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Inherited Disorders
The TTC8 Gene Bardet-Biedl Syndrome Type 8 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the TTC8 gene, which are responsible for Bardet-Biedl syndrome type 8. This rare autosomal recessive disorder affects multiple organ systems and requires specialized genetic testing for accurate diagnosis and management.
What Does This Test Measure?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the TTC8 gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the TTC8 gene
- Compound heterozygous mutations associated with Bardet-Biedl syndrome
- Genetic variations affecting ciliary function and protein trafficking
- Inheritance patterns consistent with autosomal recessive transmission
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of Bardet-Biedl syndrome, including:
- Progressive vision loss due to retinal dystrophy
- Polydactyly (extra fingers or toes)
- Obesity and metabolic abnormalities
- Renal abnormalities and kidney dysfunction
- Learning disabilities and developmental delays
- Hypogonadism and reproductive system abnormalities
- Family history of similar symptoms or consanguinity
Clinical Benefits of Genetic Testing
Undergoing the TTC8 Gene Bardet-Biedl Syndrome Type 8 test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Bardet-Biedl syndrome type 8
- Personalized Management: Enables targeted monitoring and treatment strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of potential complications
- Comprehensive Care: Guides multidisciplinary approach involving hepatology, nephrology, and endocrinology specialists
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and clinicians:
- Positive Result: Indicates the presence of pathogenic mutations in the TTC8 gene, confirming Bardet-Biedl syndrome type 8 diagnosis
- Negative Result: Suggests absence of detectable mutations in the TTC8 gene, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Technology: Next-Generation Sequencing (NGS)
- Specialty: Genetics
- Related Departments: Hepatology, Nephrology, Endocrinology
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Accessibility
We have diagnostic centers conveniently located 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 ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. The TTC8 Gene Bardet-Biedl Syndrome Type 8 NGS Genetic DNA Test provides the definitive answers you need for informed medical planning and family management.
Call us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling team. Take control of your genetic health with comprehensive, accurate testing from trusted specialists.
