Short Description

NGS genetic DNA test detecets for variant and mutation detection in BBS9 gene for Bardet-Biedl syndrome type 9

PreTest Information

Clinical History of Patient who is going for BBS9 Gene Bardet-Biedl syndrome type 9 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BBS9 Gene Bardet-Biedl syndrome type 9 NGS Genetic DNA Test gene BBS9

Detail Description

Bardet-Biedl Syndrome Type 9 - Understanding the BBS9 Gene and the NGS Genetic DNA Test

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple organ systems in the body. It is caused by mutations in any one of the 32 genes that have been identified as BBS genes. BBS9 is one of these genes, and mutations in this gene are responsible for Bardet-Biedl Syndrome Type 9. In this blog, we will discuss the BBS9 gene, the symptoms of BBS Type 9, the diagnosis process, and the NGS Genetic DNA Test that is used to detect mutations in the BBS9 gene.

The BBS9 Gene

The BBS9 gene provides instructions for making a protein that is involved in the development and maintenance of cilia. Cilia are tiny hair-like structures that protrude from the surface of cells and are involved in various cellular processes, including cell signaling, fluid movement, and sensory perception. Mutations in the BBS9 gene disrupt the function of cilia, leading to the symptoms of BBS Type 9.

Symptoms of BBS Type 9

BBS Type 9 is characterized by a range of symptoms that affect various organ systems in the body. These symptoms may include:

• Obesity
• Retinal degeneration
• Polydactyly (extra fingers or toes)
• Kidney abnormalities
• Learning difficulties
• Hypogonadism (reduced hormone production)

The severity and combination of symptoms can vary widely among individuals with BBS Type 9, even among members of the same family.

Diagnosis of BBS Type 9

Diagnosing BBS Type 9 typically involves a combination of clinical evaluation, imaging studies, and genetic testing. Physical examination may reveal characteristic features such as extra fingers or toes, obesity, or retinal abnormalities. Imaging studies such as renal ultrasound or MRI may be used to assess kidney function and structure. Genetic testing is used to confirm a diagnosis of BBS Type 9 by identifying mutations in the BBS9 gene.

NGS Genetic DNA Test for BBS Type 9

The NGS Genetic DNA Test is a highly accurate and sensitive test that can detect mutations in the BBS9 gene. This test uses next-generation sequencing technology to analyze the DNA sequence of the BBS9 gene and identify any variations or mutations that may be present. The test can be performed using a blood or saliva sample, and the results are typically available within a few weeks.

Cost of NGS Genetic DNA Test for BBS Type 9

The cost of the NGS Genetic DNA Test for BBS Type 9 in India is approximately INR 20,000. This cost may vary depending on the laboratory or diagnostic center where the test is performed. It is important to note that genetic testing may not be covered by insurance, and patients should check with their provider to determine their coverage and out-of-pocket costs.

Conclusion

Bardet-Biedl Syndrome Type 9 is a rare genetic disorder caused by mutations in the BBS9 gene. The symptoms of BBS Type 9 can vary widely, and diagnosis typically involves a combination of clinical evaluation, imaging studies, and genetic testing. The NGS Genetic DNA Test is a highly accurate and sensitive test that can detect mutations in the BBS9 gene. While the cost of this test may vary, it is an important tool for confirming a diagnosis of BBS Type 9 and guiding appropriate treatment and management.

The BBS9 gene (Bardet-Biedl Syndrome 9) is associated with Bardet-Biedl syndrome (BBS), a rare genetic disorder that affects multiple body systems, including vision, obesity, kidney function, and other organs. BBS is characterized by a combination of features such as retinal degeneration, obesity, polydactyly (extra fingers or toes), intellectual disability, kidney abnormalities, and more. Genetic testing of the BBS9 gene can help identify mutations or variants that may be linked to Bardet-Biedl syndrome type 9.