BBS1 Gene Bardet-Biedl Syndrome Type 1 NGS Genetic DNA Test
Introduction to the BBS1 Gene Bardet-Biedl Syndrome Type 1 NGS Genetic DNA Test
The BBS1 Gene Bardet-Biedl Syndrome Type 1 NGS Genetic DNA Test is a specialized diagnostic test designed to identify mutations in the BBS1 gene, which are responsible for Bardet-Biedl syndrome (BBS). This syndrome is a rare genetic disorder characterized by a combination of symptoms including obesity, retinal degeneration, polydactyly, and renal abnormalities. Early detection through genetic testing is vital for managing and treating associated health challenges effectively.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to analyze the BBS1 gene. It detects specific genetic mutations that could predispose individuals to Bardet-Biedl syndrome and its related complications.
Who Should Consider This Test?
Individuals who should consider the BBS1 Gene Bardet-Biedl Syndrome Type 1 NGS Genetic DNA Test include:
- Those with a family history of Bardet-Biedl syndrome.
- Patients exhibiting symptoms such as obesity, renal issues, or vision problems.
- Individuals with known genetic disorders in the family that may relate to BBS.
Benefits of Taking the Test
Taking the BBS1 Gene Bardet-Biedl Syndrome Type 1 NGS Genetic DNA Test offers several benefits:
- Early diagnosis and intervention can significantly improve quality of life.
- Informed family planning and genetic counseling options for at-risk individuals.
- Personalized treatment plans based on genetic findings.
Understanding Your Results
After the test, results will be provided, indicating whether a mutation was detected. It is essential to discuss these results with a healthcare provider, who can offer guidance on the implications for health and further management.
Test Information and Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
BBS1 Gene Bardet-Biedl Syndrome Type 1 NGS Genetic DNA Test | 400000 NGN | 560000 NGN |
Booking the Test
To book the BBS1 Gene Bardet-Biedl Syndrome Type 1 NGS Genetic DNA Test, please contact us at +2348110567037 via call or WhatsApp. Our team is ready to assist you with scheduling your appointment and answering any questions you may have.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The test requires a blood sample or extracted DNA, or even one drop of blood on an FTA card. Prior to testing, a clinical history of the patient is necessary, along with a genetic counseling session to create a pedigree chart of family members affected by the BBS1 gene.
Specialty: General Physician
Department: Genetics
Method: NGS Technology
Disease Type: Hepatology, Nephrology, Endocrinology Disorders