Short Description

NGS genetic DNA test detecets for variant and mutation detection in CPLANE1 gene for Joubert syndrome type 17

PreTest Information

Clinical History of Patient who is going for CPLANE1 Gene Joubert syndrome type 17 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CPLANE1 Gene Joubert syndrome type 17

Detail Description

CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum and brainstem. It is caused by mutations in different genes, one of which is the CPLANE1 gene. CPLANE1 gene Joubert Syndrome type 17 is a specific subtype of Joubert Syndrome that is caused by mutations in the CPLANE1 gene. The NGS genetic DNA test for CPLANE1 gene Joubert Syndrome type 17 is available in India at a cost of INR 20000.

Symptoms of CPLANE1 Gene Joubert Syndrome Type 17

The symptoms of CPLANE1 gene Joubert Syndrome type 17 are similar to other subtypes of Joubert Syndrome. These symptoms can vary in severity and may include:

• Hypotonia (low muscle tone)
• Abnormal breathing patterns
• Ataxia (lack of coordination)
• Intellectual disability
• Abnormal eye movements
• Kidney problems

Some individuals with CPLANE1 gene Joubert Syndrome type 17 may also experience liver disease, seizures, and heart abnormalities.

Diagnosis of CPLANE1 Gene Joubert Syndrome Type 17

Diagnosis of CPLANE1 gene Joubert Syndrome type 17 is typically based on clinical symptoms and genetic testing. A physical exam may reveal hypotonia, abnormal eye movements, and ataxia. Imaging studies such as an MRI may show abnormalities in the cerebellum and brainstem. Genetic testing can confirm a mutation in the CPLANE1 gene.

NGS Genetic DNA Test for CPLANE1 Gene Joubert Syndrome Type 17

The NGS genetic DNA test for CPLANE1 gene Joubert Syndrome type 17 is a diagnostic test that analyzes the DNA sequence of the CPLANE1 gene. This test can identify mutations in the gene that are associated with Joubert Syndrome type 17. The test is performed on a blood or saliva sample and typically takes a few weeks for results to be available. The cost of the NGS genetic DNA test for CPLANE1 gene Joubert Syndrome type 17 in India is INR 20000.

Conclusion

Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum and brainstem. CPLANE1 gene Joubert Syndrome type 17 is a specific subtype of Joubert Syndrome that is caused by mutations in the CPLANE1 gene. The NGS genetic DNA test for CPLANE1 gene Joubert Syndrome type 17 is available in India at a cost of INR 20000. Early diagnosis and management of Joubert Syndrome can improve outcomes and quality of life for affected individuals.

If you suspect that you or a loved one may have Joubert Syndrome, it is important to speak with a genetic counselor or healthcare provider. They can help determine if genetic testing is appropriate and provide guidance on management and treatment options.