BBS1 Gene Bardet-Biedl Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Multi-System Disorders
The BBS1 Gene Bardet-Biedl Syndrome Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the BBS1 gene, which are responsible for Bardet-Biedl syndrome type 1. This rare autosomal recessive genetic 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 BBS1 gene, which encodes a protein crucial for the proper functioning of cilia – microscopic hair-like structures present on the surface of many cell types. Mutations in this gene disrupt ciliary function, leading to the characteristic features of Bardet-Biedl syndrome type 1.
- Detection of pathogenic variants in the BBS1 gene
- Identification of autosomal recessive inheritance patterns
- Analysis of single nucleotide variants and small insertions/deletions
- Comprehensive coverage of the entire BBS1 coding region
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 due to retinal dystrophy
- Early-onset obesity and metabolic abnormalities
- Renal abnormalities and kidney dysfunction
- Polydactyly (extra fingers or toes)
- Developmental delays and learning disabilities
- Hypogonadism and reproductive system abnormalities
- Hepatic involvement and liver function concerns
- Endocrine system disorders
Significant Benefits of Genetic Testing
Undergoing the BBS1 Gene Bardet-Biedl Syndrome Type 1 NGS Genetic DNA Test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out Bardet-Biedl syndrome type 1 with high precision
- Personalized Management: Enables tailored treatment plans based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of associated health complications
- Comprehensive Care: Guides multidisciplinary approach involving hepatology, nephrology, and endocrinology specialists
Understanding Your Test Results
Our genetic counselors provide comprehensive interpretation of your test results:
- Positive Result: Indicates the presence of pathogenic mutations in the BBS1 gene, confirming Bardet-Biedl syndrome type 1 diagnosis
- Negative Result: Suggests that BBS1 gene mutations are not detected, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated BBS1 gene
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| BBS1 Gene Bardet-Biedl Syndrome Type 1 NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We have comprehensive testing facilities across the United States, with branches in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures convenient access to advanced genetic testing services regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of Bardet-Biedl syndrome or have a family history of this condition, don’t delay in seeking genetic clarity. Our team of genetic specialists is ready to provide comprehensive testing and counseling services.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test appointment or to speak with our genetic counseling team.
With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or one drop of blood on FTA card, we make genetic testing accessible and convenient for patients across the United States.
