Short Description

NGS genetic DNA test detecets for variant and mutation detection in CLP1 gene for Pontocerebellar hypoplasia, type 10

PreTest Information

Clinical History of Patient who is going for CLP1 Gene Pontocerebellar hypoplasia, type 10 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CLP1 Gene Pontocerebellar hypoplasia, type 10

Detail Description

CLP1 Gene Pontocerebellar Hypoplasia, Type 10 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

CLP1 gene pontocerebellar hypoplasia, type 10 is a rare genetic disorder that affects the development of the brain. It is caused by mutations in the CLP1 gene, which provides instructions for making a protein that is important for the normal function of nerve cells. This disorder is inherited in an autosomal recessive manner, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Symptoms of CLP1 Gene Pontocerebellar Hypoplasia, Type 10

The symptoms of CLP1 gene pontocerebellar hypoplasia, type 10 can vary from person to person and can range from mild to severe. Some of the most common symptoms include:

• Developmental delays
• Intellectual disability
• Low muscle tone
• Seizures
• Difficulty swallowing and feeding
• Abnormal movements
• Abnormal breathing
• Difficulty walking

Diagnosis of CLP1 Gene Pontocerebellar Hypoplasia, Type 10

CLP1 gene pontocerebellar hypoplasia, type 10 can be diagnosed through genetic testing. This test analyzes a person's DNA to look for mutations in the CLP1 gene. Genetic testing can be done before birth through chorionic villus sampling or amniocentesis, or after birth through a blood sample. A diagnosis can also be made through a physical exam and by evaluating a person's symptoms.

NGS Genetic DNA Test Cost INR:20000

The cost of an NGS genetic DNA test for CLP1 gene pontocerebellar hypoplasia, type 10 in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and any additional fees that may be associated with the test. It is important to check with your healthcare provider or the testing facility to get an accurate cost estimate.

Conclusion

CLP1 gene pontocerebellar hypoplasia, type 10 is a rare genetic disorder that can cause a range of symptoms, from mild to severe. Genetic testing can be used to diagnose this condition, and the cost of an NGS genetic DNA test in India is approximately INR 20,000. If you suspect that you or a loved one may have this condition, it is important to speak with a healthcare provider to discuss testing and treatment options.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for CLP1 gene pontocerebellar hypoplasia, type 10. Our team of experienced professionals is dedicated to providing accurate and reliable results, as well as compassionate support throughout the testing process. Contact us today to learn more about our services and how we can help you.