Short Description

NGS genetic DNA test detecets for variant and mutation detection in CEP290 gene for Joubert syndrome type 5

PreTest Information

Clinical History of Patient who is going for CEP290 Gene Joubert syndrome type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CEP290 Gene Joubert syndrome type 5

Detail Description

CEP290 Gene Joubert Syndrome Type 5 NGS Genetic DNA Test - Symptoms, Diagnosis and Cost

CEP290 Gene Joubert Syndrome Type 5 is a rare genetic disorder that affects the development of the brainstem and cerebellum. This syndrome is caused by mutations in the CEP290 gene, which is responsible for producing a protein that is essential for the development and function of these areas of the brain.

Symptoms of CEP290 Gene Joubert Syndrome Type 5

The symptoms of CEP290 Gene Joubert Syndrome Type 5 can vary widely, but generally include:

• Hypotonia (low muscle tone)
• Abnormal breathing patterns
• Ataxia (lack of coordination)
• Nystagmus (involuntary eye movements)
• Cognitive impairment
• Developmental delays
• Kidney disease

Diagnosis of CEP290 Gene Joubert Syndrome Type 5

Diagnosis of CEP290 Gene Joubert Syndrome Type 5 can be challenging, as the symptoms can be similar to other neurological disorders. However, genetic testing can confirm the presence of mutations in the CEP290 gene.

Next-generation sequencing (NGS) is a powerful tool for genetic testing, as it can sequence entire genes or even entire genomes quickly and accurately. NGS can be used to identify mutations in the CEP290 gene, allowing for a definitive diagnosis of CEP290 Gene Joubert Syndrome Type 5.

Cost of CEP290 Gene Joubert Syndrome Type 5 NGS Genetic DNA Test

The cost of the CEP290 Gene Joubert Syndrome Type 5 NGS Genetic DNA Test in India is approximately INR 20,000. This may vary depending on the testing facility and any additional tests that may be required.

Conclusion

CEP290 Gene Joubert Syndrome Type 5 is a rare genetic disorder that can cause a wide range of symptoms. Genetic testing, particularly NGS, can be used to diagnose this condition with a high degree of accuracy. While the cost of testing may vary, it is a valuable tool for families and healthcare providers seeking a definitive diagnosis.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS testing for CEP290 Gene Joubert Syndrome Type 5. Contact us today to learn more about our testing options and how we can help you.