Short Description

NGS genetic DNA test detecets for variant and mutation detection in AMPD2 gene for Pontocerebellar hypoplasia, type 9

PreTest Information

Clinical History of Patient who is going for AMPD2 Gene Pontocerebellar hypoplasia, type 9 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AMPD2 Gene Pontocerebellar hypoplasia, type 9

Detail Description

DNA Labs India: AMPD2 Gene and Pontocerebellar Hypoplasia, Type 9

DNA Labs India offers NGS Genetic DNA Test for the AMPD2 gene, which is associated with Pontocerebellar Hypoplasia, Type 9. This genetic disorder affects the development of the brain and the cerebellum, leading to various symptoms and developmental delays. The cost of this genetic test is INR 20,000.

Symptoms of Pontocerebellar Hypoplasia, Type 9

Pontocerebellar Hypoplasia, Type 9 is a rare genetic disorder that affects the development of the brain and the cerebellum. The symptoms of this disorder can vary widely and may include:

• Delayed development of motor skills
• Difficulty with coordination and balance
• Weak muscle tone (hypotonia)
• Seizures
• Intellectual disability
• Abnormal eye movements (nystagmus)
• Difficulty with speech and language

Diagnosis of Pontocerebellar Hypoplasia, Type 9

Pontocerebellar Hypoplasia, Type 9 is diagnosed through genetic testing, which can identify mutations in the AMPD2 gene. This genetic test can be performed on a blood or saliva sample, and the results can be used to confirm a diagnosis of this disorder. Genetic testing can also be used to identify carriers of the AMPD2 gene mutation.

NGS Genetic DNA Test for AMPD2 Gene

DNA Labs India offers NGS Genetic DNA Test for the AMPD2 gene, which can identify mutations that are associated with Pontocerebellar Hypoplasia, Type 9. This genetic test is performed using next-generation sequencing (NGS) technology, which allows for a comprehensive analysis of the entire AMPD2 gene. The cost of this genetic test is INR 20,000.

Conclusion

Pontocerebellar Hypoplasia, Type 9 is a rare genetic disorder that can cause developmental delays and other symptoms. The AMPD2 gene has been identified as a key factor in the development of this disorder, and genetic testing can help to identify mutations that are associated with this gene. DNA Labs India offers NGS Genetic DNA Test for the AMPD2 gene, which can provide valuable information for patients and their families. The cost of this genetic test is INR 20,000, and it can be performed on a blood or saliva sample.

If you suspect that you or someone in your family may have Pontocerebellar Hypoplasia, Type 9, it is important to speak with a healthcare professional and consider genetic testing. DNA Labs India is committed to providing accurate and reliable genetic testing services to patients and healthcare providers in India.

Contact DNA Labs India today to learn more about our NGS Genetic DNA Test for the AMPD2 gene and other genetic testing services.