Short Description

NGS genetic DNA test detecets for variant and mutation detection in TTC8 gene for Bardet-Biedl syndrome type 8

PreTest Information

Clinical History of Patient who is going for TTC8 Gene Bardet-Biedl syndrome type 8 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TTC8 Gene Bardet-Biedl syndrome type 8 NGS Genetic DNA Test gene TTC8

Detail Description

TTC8 Gene and Bardet-Biedl Syndrome Type 8: Symptoms, Diagnosis and Genetic Testing

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple organs and systems in the body, including vision, hearing, obesity, and kidney function. It is caused by mutations in at least 19 different genes, including the TTC8 gene, also known as BBS8.

BBS8 is located on chromosome 14 and encodes a protein called BBS8, which is involved in the assembly and function of cilia, the hair-like structures on the surface of cells that are important for sensing and signaling. Mutations in BBS8 and other BBS genes disrupt the structure and function of cilia, leading to the diverse symptoms of BBS.

Symptoms of Bardet-Biedl Syndrome Type 8

The symptoms of BBS8-related BBS are similar to those of other types of BBS, but may vary in severity and onset. Some of the common symptoms include:

• Retinal degeneration and vision loss
• Obesity and abnormal fat distribution
• Type 2 diabetes and insulin resistance
• Hearing loss and balance problems
• Renal abnormalities and kidney failure
• Developmental delays and intellectual disability
• Polydactyly (extra fingers or toes)

Not all individuals with BBS have all of these symptoms, and some may have additional features not listed here.

Diagnosis of Bardet-Biedl Syndrome Type 8

BBS is typically diagnosed based on clinical features and genetic testing. A doctor may suspect BBS in a patient who has several of the symptoms listed above, especially if they are present from childhood or early adolescence. A thorough physical exam, vision and hearing tests, and lab tests may be ordered to confirm the diagnosis.

Genetic testing is the most reliable way to diagnose BBS and identify the specific gene(s) involved. NGS (Next-Generation Sequencing) technology can analyze multiple genes simultaneously and detect even rare mutations. DNA Labs India offers a comprehensive BBS panel that includes sequencing and deletion/duplication analysis of the BBS genes, including BBS8/TTC8. The cost of the test is INR 20,000 and results are typically available within 4-6 weeks.

Conclusion

Bardet-Biedl Syndrome Type 8 is a rare genetic disorder caused by mutations in the TTC8/BBS8 gene. The symptoms of BBS8-related BBS are diverse and can affect multiple organs and systems in the body. Genetic testing, such as the BBS panel offered by DNA Labs India, can provide a definitive diagnosis and help guide appropriate management and treatment options. If you or someone you know has symptoms of BBS, it is important to consult a healthcare provider and consider genetic testing.

For more information on BBS and genetic testing, please contact DNA Labs India.