Short Description

NGS genetic DNA test detecets for variant and mutation detection in DLAT gene for Pyruvate dehydrogenase E2 deficiency

PreTest Information

Clinical History of Patient who is going for DLAT Gene Pyruvate dehydrogenase E2 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate dehydrogenase E2 deficiency

Detail Description

DLAT Gene Pyruvate Dehydrogenase E2 Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DLAT gene Pyruvate dehydrogenase E2 deficiency is a rare genetic disorder that affects the body's ability to process carbohydrates. The condition is caused by mutations in the DLAT gene, which provides instructions for making a protein that is essential for the function of the pyruvate dehydrogenase complex. This complex is responsible for converting pyruvate, a molecule produced during the breakdown of carbohydrates, into energy that the body can use.

Symptoms of DLAT gene Pyruvate dehydrogenase E2 deficiency can vary widely, but often include developmental delays, seizures, muscle weakness, and other neurological problems. The condition can be difficult to diagnose, as symptoms can be similar to those of other neurological disorders.

One way to diagnose DLAT gene Pyruvate dehydrogenase E2 deficiency is through a genetic DNA test using next-generation sequencing (NGS) technology. This test can identify mutations in the DLAT gene and other genes that may be involved in the condition.

The cost of an NGS genetic DNA test for DLAT gene Pyruvate dehydrogenase E2 deficiency in India is typically around INR 20,000. This cost may vary depending on the specific test and the laboratory performing the analysis.

If you suspect that you or a loved one may have DLAT gene Pyruvate dehydrogenase E2 deficiency, it is important to consult with a healthcare professional for a proper diagnosis and treatment plan. Genetic testing can be a valuable tool in identifying the underlying cause of the condition and developing an appropriate treatment approach.

In addition to genetic testing, treatment for DLAT gene Pyruvate dehydrogenase E2 deficiency may include medications to manage symptoms, physical therapy, and other supportive measures. The specific treatment plan will depend on the individual's symptoms and medical history.

In conclusion, DLAT gene Pyruvate dehydrogenase E2 deficiency is a rare genetic disorder that can have a significant impact on an individual's health and quality of life. NGS genetic DNA testing can be a valuable tool in diagnosing the condition and developing an appropriate treatment plan. The cost of such testing in India is typically around INR 20,000, but may vary depending on the specific test and laboratory. If you suspect that you or a loved one may have DLAT gene Pyruvate dehydrogenase E2 deficiency, it is important to consult with a healthcare professional for proper diagnosis and treatment.

Key takeaways:

• DLAT gene Pyruvate dehydrogenase E2 deficiency is a rare genetic disorder that affects the body's ability to process carbohydrates.
• Symptoms of the condition can include developmental delays, seizures, muscle weakness, and other neurological problems.
• NGS genetic DNA testing can be used to diagnose DLAT gene Pyruvate dehydrogenase E2 deficiency, with a typical cost of around INR 20,000 in India.
• Treatment for the condition may include medications, physical therapy, and other supportive measures.
• If you suspect that you or a loved one may have DLAT gene Pyruvate dehydrogenase E2 deficiency, it is important to consult with a healthcare professional for proper diagnosis and treatment.