Short Description

NGS genetic DNA test detects for variant and mutation detection in POLG gene for Alper's Syndrome

PreTest Information

Clinical History of Patient who is going for POLG Gene Alper's Syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POLG Gene Alper's Syndrome

Detail Description

POLG Gene Alper's Syndrome NGS Genetic DNA Test

Alper's syndrome is a rare genetic disorder that affects the nervous system and can cause seizures, developmental delays, and muscle weakness. It is caused by mutations in the POLG gene, which provides instructions for making an enzyme called DNA polymerase gamma. This enzyme is essential for the replication and repair of mitochondrial DNA, which is important for energy production in cells.

Symptoms of Alper's Syndrome

The symptoms of Alper's syndrome can vary widely between individuals, but may include:

• Seizures
• Developmental delays
• Muscle weakness
• Vision problems
• Hearing loss
• Liver disease
• Heart disease
• Brain damage

Diagnosis of Alper's Syndrome

Alper's syndrome is typically diagnosed based on a combination of clinical symptoms and genetic testing. A DNA test can be used to detect mutations in the POLG gene, which confirms the diagnosis.

POLG Gene Alper's Syndrome NGS Genetic DNA Test

The POLG Gene Alper's Syndrome NGS Genetic DNA Test is a specialized test that uses next-generation sequencing (NGS) technology to analyze the POLG gene for mutations. This test can detect both known and novel mutations in the gene, which can help with the diagnosis and management of Alper's syndrome.

Cost of POLG Gene Alper's Syndrome NGS Genetic DNA Test

The cost of the POLG Gene Alper's Syndrome NGS Genetic DNA Test in India is typically around INR 20,000. However, the cost may vary depending on the laboratory and other factors.

Conclusion

Alper's syndrome is a rare genetic disorder that can cause a range of symptoms, including seizures, developmental delays, and muscle weakness. The POLG Gene Alper's Syndrome NGS Genetic DNA Test is a specialized test that can help with the diagnosis and management of this condition. If you suspect that you or a loved one may have Alper's syndrome, talk to your doctor about genetic testing options.

At DNA Labs India, we offer a wide range of genetic testing services, including the POLG Gene Alper's Syndrome NGS Genetic DNA Test. Our experienced team of geneticists and technicians use state-of-the-art technology to provide accurate and reliable results. Contact us today to learn more about our services.