Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATP7A gene for Menkes disease

PreTest Information

Clinical History of Patient who is going for ATP7A Gene Menkes disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP7A Gene Menkes disease NGS Genetic DNA Test gene ATP7A

Detail Description

Understanding Menkes Disease and the Role of ATP7A Gene: NGS Genetic DNA Test Cost INR 20,000

Menkes disease is a rare genetic disorder that affects copper metabolism in the body. It is caused by a mutation in the ATP7A gene, which is responsible for encoding a protein that helps transport copper in the body. Menkes disease is also known as Menkes syndrome or kinky hair disease due to the characteristic appearance of hair in affected individuals.

Symptoms of Menkes Disease

Menkes disease is usually diagnosed in infancy or early childhood. The symptoms may vary from mild to severe and may include:

• Weak muscle tone (hypotonia)
• Slow growth and development
• Developmental delay
• Abnormal hair growth or hair loss
• Seizures
• Intellectual disability
• Feeding difficulties
• Gastrointestinal problems
• Skeletal abnormalities
• Increased susceptibility to infections

Diagnosis of Menkes Disease

The diagnosis of Menkes disease is based on clinical symptoms, physical examination, and genetic testing. A physician may conduct a physical examination to look for signs of copper deficiency, such as abnormal hair growth, skin changes, and bone abnormalities. A genetic test can confirm the diagnosis by detecting mutations in the ATP7A gene.

ATP7A Gene Testing

ATP7A gene testing is performed using Next Generation Sequencing (NGS) technology. NGS is a high-throughput DNA sequencing method that enables the simultaneous analysis of multiple genes. This technology allows for the detection of mutations in the ATP7A gene with high sensitivity and specificity. The test requires a blood sample from the patient, which is then sent to a laboratory for analysis. The results of the test can help confirm the diagnosis of Menkes disease and provide information about the specific mutation in the ATP7A gene that is causing the disease.

NGS Genetic DNA Test Cost INR 20,000

The cost of NGS genetic DNA testing for Menkes disease in India is approximately INR 20,000. The cost may vary depending on the laboratory and the specific test ordered. It is important to note that genetic testing may not be covered by insurance, and patients should check with their insurance provider to determine coverage.

Conclusion

Menkes disease is a rare genetic disorder that affects copper metabolism in the body. It is caused by a mutation in the ATP7A gene, which is responsible for encoding a protein that helps transport copper in the body. NGS genetic DNA testing is a reliable method for diagnosing Menkes disease and detecting mutations in the ATP7A gene. The cost of NGS genetic DNA testing in India is approximately INR 20,000. It is important for patients to consult with their healthcare provider and insurance company to determine coverage and eligibility for genetic testing.

At DNA Labs India, we offer NGS genetic DNA testing for Menkes disease and other genetic disorders. Our team of experts uses the latest technology and techniques to provide accurate and reliable results. Contact us today to schedule an appointment or learn more about our services.