TRIM32 Gene Bardet-Biedl Syndrome Type 11 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Multisystem Disorders
The TRIM32 Gene Bardet-Biedl Syndrome Type 11 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited conditions. This advanced testing methodology employs Next-Generation Sequencing (NGS) technology to precisely identify mutations in the TRIM32 gene, which plays a critical role in cellular function and protein regulation. Bardet-Biedl syndrome type 11 is an autosomal recessive disorder characterized by multisystem involvement, making accurate genetic diagnosis essential for proper clinical management and family planning.
What Does This Test Measure and Detect?
This sophisticated genetic test specifically targets the TRIM32 gene located on chromosome 9q33.1, analyzing the entire coding region and flanking intronic sequences to identify:
- Pathogenic variants including missense, nonsense, and frameshift mutations
- Small insertions and deletions affecting gene function
- Splice site variants that may disrupt normal protein production
- Copy number variations within the TRIM32 gene region
The test provides comprehensive coverage of all known pathogenic variants associated with Bardet-Biedl syndrome type 11, ensuring high diagnostic accuracy for this complex genetic condition.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with clinical features suggestive of Bardet-Biedl syndrome or those with a family history of the condition. Key indications include:
- Progressive vision loss or retinal dystrophy beginning in childhood
- Polydactyly (extra fingers or toes) at birth
- Obesity developing in early childhood
- Renal abnormalities or kidney dysfunction
- Learning disabilities or mild intellectual impairment
- Hypogonadism or genital abnormalities
- Hepatic involvement or liver function abnormalities
- Endocrine disorders including diabetes mellitus
- Family history of consanguinity or affected siblings
Significant Benefits of Genetic Testing
Undergoing the TRIM32 Gene Bardet-Biedl Syndrome Type 11 NGS Genetic DNA Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Bardet-Biedl syndrome type 11 with high precision
- Personalized Management: Enables targeted surveillance for associated complications
- Family Planning: Provides crucial information for reproductive decision-making
- Early Intervention: Facilitates proactive management of vision, renal, and metabolic issues
- Genetic Counseling: Helps families understand inheritance patterns and recurrence risks
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. The report will include:
- Positive Result: Identification of pathogenic variants confirms diagnosis and enables comprehensive management planning
- Negative Result: Absence of detected mutations may rule out Bardet-Biedl syndrome type 11 but doesn’t exclude other genetic conditions
- Variant of Uncertain Significance: Some genetic changes require additional family studies for proper interpretation
- Carrier Status: Identification of individuals carrying one copy of the mutated gene
All results include detailed explanations and recommendations for follow-up care, with genetic counseling sessions available to discuss implications for you and your family members.
Test Pricing and Details
| 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 cities. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Pre-Test Requirements and Genetic Counseling
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss test implications
- Development of detailed family pedigree chart
- Informed consent process explaining benefits and limitations
Our genetic counseling team specializes in rare genetic disorders and provides personalized guidance throughout the testing process.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. The TRIM32 Gene Bardet-Biedl Syndrome Type 11 NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized care planning. Our experienced team is ready to support you through every step of the genetic testing journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward genetic clarity and comprehensive healthcare management.
