Short Description

NGS genetic DNA test detecets for variant and mutation detection in BBS4 gene for Bardet-Biedl syndrome type 4

PreTest Information

Clinical History of Patient who is going for BBS4 Gene Bardet-Biedl syndrome type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BBS4 Gene Bardet-Biedl syndrome type 4 NGS Genetic DNA Test gene BBS4

Detail Description

BBS4 Gene Bardet-Biedl Syndrome Type 4 NGS Genetic DNA Test

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple parts of the body. It is caused by mutations in various genes, including the BBS4 gene. BBS4 gene mutations are responsible for Bardet-Biedl Syndrome type 4. This syndrome is characterized by obesity, vision loss, kidney abnormalities, and other symptoms. The BBS4 Gene Bardet-Biedl Syndrome Type 4 NGS Genetic DNA Test is a genetic test that can help diagnose this syndrome.

Symptoms of Bardet-Biedl Syndrome Type 4

Bardet-Biedl Syndrome type 4 is characterized by a range of symptoms that can vary in severity. Some of the most common symptoms include:

• Obesity
• Retinitis pigmentosa (vision loss)
• Kidney abnormalities
• Learning difficulties
• Delayed speech development
• Extra fingers or toes

Diagnosing Bardet-Biedl Syndrome Type 4

Bardet-Biedl Syndrome type 4 can be diagnosed through genetic testing. The BBS4 Gene Bardet-Biedl Syndrome Type 4 NGS Genetic DNA Test is a genetic test that looks for mutations in the BBS4 gene. This test can help confirm a diagnosis of Bardet-Biedl Syndrome type 4 in patients with symptoms of the disorder. The test is performed using next-generation sequencing (NGS) technology, which allows for more accurate and comprehensive analysis of DNA.

The Cost of the BBS4 Gene Bardet-Biedl Syndrome Type 4 NGS Genetic DNA Test

The cost of the BBS4 Gene Bardet-Biedl Syndrome Type 4 NGS Genetic DNA Test in India is INR 20,000. This cost includes the genetic test itself as well as any necessary counseling and support services.

Why Get Tested?

If you or a loved one is experiencing symptoms of Bardet-Biedl Syndrome type 4, getting tested can provide valuable information and help guide treatment decisions. A confirmed diagnosis can also help with genetic counseling and family planning. Additionally, early diagnosis and intervention can improve outcomes and quality of life for individuals with this disorder.

Conclusion

The BBS4 Gene Bardet-Biedl Syndrome Type 4 NGS Genetic DNA Test is a valuable tool for diagnosing Bardet-Biedl Syndrome type 4. This genetic test can help confirm a diagnosis in patients with symptoms of the disorder, and can also provide important information for genetic counseling and family planning. The cost of the test is INR 20,000, and it is recommended for individuals experiencing symptoms of Bardet-Biedl Syndrome type 4.

If you are interested in learning more about the BBS4 Gene Bardet-Biedl Syndrome Type 4 NGS Genetic DNA Test, DNA Labs India offers a comprehensive range of genetic testing services. Contact us today to schedule a consultation or to learn more about our services.