Short Description

NGS genetic DNA test detecets for variant and mutation detection in BBS7 gene for Bardet-Biedl syndrome type 7

PreTest Information

Clinical History of Patient who is going for BBS7 Gene Bardet-Biedl syndrome type 7 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BBS7 Gene Bardet-Biedl syndrome type 7 NGS Genetic DNA Test gene BBS7

Detail Description

BBS7 Gene and Bardet-Biedl Syndrome Type 7: NGS Genetic DNA Test Cost INR 20,000

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple organs and systems in the body, including the eyes, kidneys, and lungs. There are currently at least 21 known genes associated with the development of BBS, including the BBS7 gene.

What is the BBS7 Gene?

The BBS7 gene provides instructions for making a protein that is involved in the formation and function of cilia, which are tiny hair-like structures that protrude from the surface of cells. Cilia play important roles in cell signaling, movement, and sensing of the environment.

When the BBS7 gene is mutated or altered, it can lead to the development of Bardet-Biedl syndrome type 7 (BBS7), which is characterized by a wide range of symptoms and features.

Bardet-Biedl Syndrome Type 7 Symptoms and Diagnosis

Bardet-Biedl syndrome type 7 is a rare disorder, and its symptoms can vary widely from person to person. However, some common features and characteristics of the condition include:

• Obesity
• Vision problems, including retinal degeneration and blindness
• Kidney abnormalities and dysfunction
• Polydactyly (extra fingers or toes)
• Learning difficulties or intellectual disability
• Hypogonadism (underdeveloped or absent sex organs)
• Speech and language delays

Diagnosis of Bardet-Biedl syndrome type 7 typically involves a combination of physical examination, medical history, and genetic testing. NGS genetic DNA testing can be used to identify mutations or alterations in the BBS7 gene, which can confirm a diagnosis of BBS7.

NGS Genetic DNA Test Cost INR 20,000

DNA Labs India offers NGS genetic DNA testing for the BBS7 gene, as well as other genes associated with Bardet-Biedl syndrome. The cost of the test is INR 20,000, and results are typically available within 2-3 weeks.

NGS genetic DNA testing is a highly accurate and sensitive method for detecting mutations or alterations in the BBS7 gene. The test involves sequencing the entire gene, which allows for the detection of even small changes in the DNA sequence.

Conclusion

Bardet-Biedl syndrome type 7 is a rare genetic disorder that can have a wide range of symptoms and features. NGS genetic DNA testing can be used to identify mutations or alterations in the BBS7 gene, which can confirm a diagnosis of BBS7. DNA Labs India offers NGS genetic DNA testing for the BBS7 gene, with a cost of INR 20,000 and results typically available within 2-3 weeks.

If you suspect that you or a loved one may have Bardet-Biedl syndrome type 7, it is important to speak with a healthcare professional and consider genetic testing to confirm a diagnosis.