Short Description

NGS genetic DNA test detecets for variant and mutation detection in ADK gene for Hypermethioninemia due to adenosine kinase deficiency

PreTest Information

Clinical History of Patient who is going for ADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hypermethioninemia due to adenosine kinase deficiency

Detail Description

ADK Gene Hypermethioninemia due to Adenosine Kinase Deficiency NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

ADK gene hypermethioninemia is a rare genetic disorder that affects the body's ability to break down methionine, an essential amino acid. This disorder is caused by a deficiency in the adenosine kinase enzyme, which is essential for the normal functioning of the nervous system. As a result, people with ADK gene hypermethioninemia have high levels of methionine in their blood, which can lead to various health problems.

Symptoms of ADK Gene Hypermethioninemia

The symptoms of ADK gene hypermethioninemia can vary depending on the severity of the condition. Some of the common symptoms include:

• Developmental delays
• Intellectual disability
• Seizures
• Muscle weakness
• Abnormal movements
• Behavioral problems

These symptoms can develop in infancy or childhood and can worsen over time. It is essential to diagnose the condition early to manage the symptoms and prevent complications.

Diagnosis of ADK Gene Hypermethioninemia

The diagnosis of ADK gene hypermethioninemia involves a series of tests to measure the levels of methionine in the blood. The doctor may also order genetic testing to look for mutations in the ADK gene that can cause the condition.

NGS genetic DNA testing is a reliable and accurate method for diagnosing ADK gene hypermethioninemia. This test looks for mutations in the ADK gene and can identify the specific genetic variant responsible for the condition. The test can be performed on a blood or saliva sample and can provide results within a few weeks.

Cost of NGS Genetic DNA Test for ADK Gene Hypermethioninemia

The cost of NGS genetic DNA testing for ADK gene hypermethioninemia in India is approximately INR 20,000. The price may vary depending on the laboratory that performs the test and the specific services included in the test.

Conclusion

ADK gene hypermethioninemia is a rare genetic disorder that can cause various health problems. Early diagnosis is essential to manage the symptoms and prevent complications. NGS genetic DNA testing is a reliable and accurate method for diagnosing ADK gene hypermethioninemia and can provide results within a few weeks. The cost of NGS genetic DNA testing for ADK gene hypermethioninemia in India is approximately INR 20,000.

If you suspect that you or your child may have ADK gene hypermethioninemia, it is essential to consult a doctor and undergo the necessary tests for diagnosis and management of the condition.