Short Description

NGS genetic DNA test detecets for variant and mutation detection in CEP290 gene for Bardet-Biedl syndrome type 14

PreTest Information

Clinical History of Patient who is going for CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic DNA Test gene CEP290

Detail Description

CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic DNA Test

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple organ systems. It is an autosomal recessive disorder, which means that an affected individual has inherited two copies of the mutated gene, one from each parent. There are currently 21 known genes associated with BBS, and mutations in any one of these genes can cause the syndrome.

One of the genes associated with BBS is the CEP290 gene. Mutations in the CEP290 gene are the most common cause of BBS type 14. The CEP290 gene provides instructions for making a protein that is important for the function of cilia, which are tiny hair-like structures on the surface of cells that play a role in many cellular processes.

Symptoms of Bardet-Biedl Syndrome

Bardet-Biedl syndrome is characterized by a combination of symptoms that can vary from person to person. Some common symptoms of BBS include:

• Obesity
• Retinitis pigmentosa (a degenerative eye disease that can cause vision loss)
• Delayed development
• Abnormalities of the genitalia
• Kidney abnormalities
• Cognitive impairment

Other symptoms that may be present in some individuals with BBS include extra fingers or toes, speech and language difficulties, and diabetes.

Diagnosis of Bardet-Biedl Syndrome

Bardet-Biedl syndrome is diagnosed based on a combination of clinical features and genetic testing. A doctor may suspect BBS in a patient based on their symptoms, and genetic testing can confirm the diagnosis.

Genetic testing for BBS typically involves sequencing of the known BBS genes, including the CEP290 gene. Next-generation sequencing (NGS) is a powerful tool that can sequence multiple genes at once, making it a useful tool for genetic testing of BBS.

CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic DNA Test Cost

The cost of the CEP290 gene Bardet-Biedl syndrome type 14 NGS genetic DNA test in India is INR 20,000.

This test is available from DNA Labs India, a leading provider of genetic testing services in India. DNA Labs India uses state-of-the-art technology to perform genetic testing, ensuring accurate and reliable results.

Conclusion

Bardet-Biedl syndrome is a rare genetic disorder that can cause a range of symptoms affecting multiple organ systems. Genetic testing, including NGS sequencing of the CEP290 gene, can help diagnose BBS and provide valuable information for treatment and management of the disorder.

If you or a loved one are experiencing symptoms of BBS, consider speaking with a healthcare provider about genetic testing options. DNA Labs India offers a range of genetic testing services, including the CEP290 gene Bardet-Biedl syndrome type 14 NGS genetic DNA test.

Remember that early diagnosis and treatment can help improve outcomes for individuals with Bardet-Biedl syndrome.

For more information on genetic testing and DNA Labs India's services, visit their website today.