Short Description

NGS genetic DNA test detecets for variant and mutation detection in B9D1 gene for Meckel syndrome type 9

PreTest Information

Clinical History of Patient who is going for B9D1 Gene Meckel syndrome type 9 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with B9D1 Gene Meckel syndrome type 9 NGS Genetic DNA Test gene B9D1

Detail Description

B9D1 Gene Meckel Syndrome Type 9 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Meckel Syndrome is a rare genetic disorder that affects multiple organ systems in the body, including the brain, kidneys, and liver. Type 9 Meckel Syndrome is caused by mutations in the B9D1 gene, which is responsible for the formation and function of cilia in the body. Cilia are tiny, hair-like structures that play a crucial role in the movement of fluids in the body and the detection of external stimuli. Mutations in the B9D1 gene can lead to the dysfunction of cilia, which can cause a range of symptoms and complications.

Symptoms of Meckel Syndrome Type 9

The symptoms of Meckel Syndrome Type 9 can vary widely depending on the severity of the mutations in the B9D1 gene. Some of the most common symptoms of the disorder include:

• Cystic kidneys
• Enlarged liver
• Brain abnormalities
• Abnormal facial features
• Respiratory problems

In severe cases, Meckel Syndrome Type 9 can be fatal, and babies with the disorder may die before or shortly after birth.

Diagnosis of Meckel Syndrome Type 9

Diagnosing Meckel Syndrome Type 9 can be challenging, as the disorder is rare and its symptoms can be similar to those of other genetic disorders. However, genetic testing can help identify mutations in the B9D1 gene that are associated with the disorder.

NGS (Next Generation Sequencing) Genetic DNA testing is a powerful tool that can help identify mutations in the B9D1 gene with high accuracy. NGS testing uses advanced sequencing techniques to read the entire DNA sequence of a person's genome, which can help identify mutations that may be responsible for the disorder.

Cost of Meckel Syndrome Type 9 NGS Genetic DNA Test

The cost of Meckel Syndrome Type 9 NGS Genetic DNA Test in India is approximately INR 20000. However, the cost may vary depending on the laboratory and the specific tests that are performed.

Conclusion

Meckel Syndrome Type 9 is a rare genetic disorder that can cause a range of symptoms and complications. Genetic testing, such as NGS Genetic DNA Testing, can help diagnose the disorder with high accuracy. If you or a loved one are experiencing symptoms of Meckel Syndrome Type 9, it is important to speak with a healthcare professional about genetic testing and treatment options.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic DNA Testing for Meckel Syndrome Type 9. Our experienced team of genetic counselors and scientists can provide comprehensive genetic testing and counseling services to help you understand your risk for genetic disorders and make informed decisions about your health.