Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHMP1A gene for Pontocerebellar hypoplasia type 8

PreTest Information

Clinical History of Patient who is going for CHMP1A Gene Pontocerebellar hypoplasia type 8 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHMP1A Gene Pontocerebellar hypoplasia type 8

Detail Description

CHMP1A Gene Pontocerebellar Hypoplasia Type 8 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

If you or a loved one has been diagnosed with Pontocerebellar Hypoplasia Type 8 (PCH8), it is important to understand the role of the CHMP1A gene in this condition. The CHMP1A gene is responsible for producing a protein that helps regulate cell division and growth. Mutations in this gene can result in PCH8, a rare genetic disorder that affects the development of the brainstem and cerebellum.

Symptoms of PCH8

PCH8 is characterized by developmental delays, particularly in motor skills such as sitting, standing, and walking. Other symptoms may include:

• Difficulty with speech and language
• Seizures
• Abnormal eye movements
• Low muscle tone (hypotonia)
• Difficulty swallowing (dysphagia)
• Intellectual disability

These symptoms typically appear in infancy or early childhood.

Diagnosis

Diagnosing PCH8 typically involves a physical exam, a review of medical history, and genetic testing. Genetic testing can confirm the presence of a mutation in the CHMP1A gene. Next-generation sequencing (NGS) is a common method used to analyze genetic material and identify mutations. This type of testing can help to confirm a diagnosis and provide information about the specific mutation causing PCH8.

NGS Genetic DNA Test Cost INR:20000

The cost of an NGS genetic DNA test for PCH8 is typically around INR:20000 in India. This cost may vary depending on the laboratory and the specific test being performed. It is important to discuss the cost of testing with your healthcare provider and insurance company before proceeding with testing.

Conclusion

Pontocerebellar Hypoplasia Type 8 is a rare genetic disorder that can have significant impacts on a person's development and quality of life. Genetic testing can help to confirm a diagnosis and provide important information about the specific mutation causing PCH8. If you or a loved one is experiencing symptoms of PCH8, it is important to seek medical attention and discuss genetic testing with your healthcare provider.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for PCH8. Our team of experts can help you understand the testing process and provide support throughout the testing and diagnosis process. Contact us today to learn more.