BBS2 Gene Bardet-Biedl Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Multisystem Disorders
The BBS2 Gene Bardet-Biedl Syndrome Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the BBS2 gene, which plays a critical role in cellular function and ciliary development. Bardet-Biedl syndrome type 2 is a rare autosomal recessive genetic disorder characterized by multiple system involvement, making early and accurate diagnosis essential for proper management and treatment planning.
What This Test Measures and Detects
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the BBS2 gene for pathogenic variants, including:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Frameshift mutations affecting protein function
- Splice site variants impacting gene expression
The test specifically targets the BBS2 gene located on chromosome 16q21, which encodes a protein crucial for the proper functioning of primary cilia – essential cellular structures involved in signal transduction and sensory perception.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of Bardet-Biedl syndrome type 2, including:
- Vision Problems: Progressive retinal dystrophy, night blindness, or visual field loss
- Developmental Concerns: Intellectual disability, learning difficulties, or developmental delays
- Physical Characteristics: Obesity, polydactyly (extra fingers or toes), or brachydactyly
- Renal Abnormalities: Kidney structural defects, renal dysfunction, or recurrent urinary tract infections
- Endocrine Issues: Diabetes mellitus, hypogonadism, or thyroid dysfunction
- Family History: Individuals with family members diagnosed with Bardet-Biedl syndrome
Significant Benefits of Genetic Testing
Undergoing the BBS2 Gene Bardet-Biedl Syndrome Type 2 NGS Genetic DNA Test provides numerous advantages:
- Early Diagnosis: Enables prompt intervention and management strategies
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Monitoring: Facilitates regular screening for associated complications
- Accurate Prognosis: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be thoroughly explained during your genetic counseling session. Possible outcomes include:
- Positive Result: Identified pathogenic variants confirm Bardet-Biedl syndrome type 2 diagnosis
- Negative Result: No pathogenic variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of the mutated gene
Our genetic counselors will provide comprehensive guidance on interpreting results, managing the condition, and discussing implications for family members.
Test Pricing and Sample Requirements
| Test Component | Details |
|---|---|
| Test Name | BBS2 Gene Bardet-Biedl Syndrome Type 2 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Preparation and Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to Bardet-Biedl syndrome type 2
- Participation in a genetic counseling session
- Development of a detailed pedigree chart documenting affected family members
- Informed consent for genetic testing
Nationwide Accessibility and Booking
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 nationwide.
Ready to take the next step toward genetic clarity? Our dedicated team is available to schedule your appointment and answer any questions about the BBS2 Gene Bardet-Biedl Syndrome Type 2 NGS Genetic DNA Test.
Call or WhatsApp us today at +1(267) 388-9828 to book your comprehensive genetic evaluation and begin your journey toward accurate diagnosis and personalized care management.
