Short Description

NGS genetic DNA test detecets for variant and mutation detection in BBS5 gene for Bardet-Biedl syndrome type 5

PreTest Information

Clinical History of Patient who is going for BBS5 Gene Bardet-Biedl syndrome type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BBS5 Gene Bardet-Biedl syndrome type 5 NGS Genetic DNA Test gene BBS5

Detail Description

BBS5 Gene and Bardet-Biedl Syndrome Type 5: NGS Genetic DNA Test Cost INR 20000, Symptoms, and Diagnosis

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects various organs and systems of the body, including vision, hearing, kidney function, and obesity. It is caused by mutations in one of the many genes involved in the development and function of cilia, which are tiny, hair-like structures found on the surface of cells in many organs and tissues.

There are currently more than 20 known genes associated with BBS, and one of them is the BBS5 gene. Mutations in this gene account for approximately 5% of all cases of BBS. Testing for BBS5 gene mutations is available through Next-Generation Sequencing (NGS) Genetic DNA testing, which can cost around INR 20000.

Symptoms of Bardet-Biedl Syndrome Type 5

The symptoms of Bardet-Biedl Syndrome Type 5 can vary greatly from person to person, even among those with the same genetic mutation. However, some common symptoms of BBS5-related BBS include:

• Vision problems, such as progressive loss of vision, night blindness, and tunnel vision
• Hearing problems, including hearing loss or difficulty processing speech
• Kidney dysfunction, which can lead to kidney failure in severe cases
• Obesity, often starting in childhood or adolescence and leading to an increased risk of type 2 diabetes, high blood pressure, and heart disease
• Extra fingers or toes, or other limb abnormalities
• Delayed or incomplete puberty

Diagnosis of Bardet-Biedl Syndrome Type 5

The diagnosis of Bardet-Biedl Syndrome Type 5 is typically made through a combination of clinical evaluation and genetic testing. A doctor may suspect BBS based on a patient’s symptoms and family history, and may perform a physical exam, vision and hearing tests, and blood and urine tests to check kidney function and other factors.

If BBS is suspected, genetic testing can help confirm the diagnosis and identify the specific gene mutation involved. NGS Genetic DNA testing can analyze multiple genes simultaneously and can help identify mutations in the BBS5 gene or other genes associated with BBS.

NGS Genetic DNA Test Cost INR 20000

The cost of NGS Genetic DNA testing for BBS5 gene mutations can vary depending on the provider and the specific tests performed. However, typical costs for this type of testing are around INR 20000.

Some insurance plans may cover the cost of genetic testing for BBS or other genetic disorders, particularly if there is a family history of the condition. Patients should check with their insurance provider to determine coverage and any associated costs.

Conclusion

Bardet-Biedl Syndrome Type 5 is a rare genetic disorder caused by mutations in the BBS5 gene. Symptoms can vary widely, but often include vision and hearing problems, kidney dysfunction, and obesity. NGS Genetic DNA testing can help diagnose BBS5-related BBS and costs around INR 20000. Patients should talk to their doctor about genetic testing options and insurance coverage.

At DNA Labs India, we provide reliable and accurate NGS Genetic DNA testing for Bardet-Biedl Syndrome Type 5 and other genetic disorders. Contact us today to learn more.