Short Description

NGS genetic DNA test detecets for variant and mutation detection in ETFDH gene for Glutaric acidemia type 2C

PreTest Information

Clinical History of Patient who is going for ETFDH Gene Glutaric acidemia type 2C NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glutaric acidemia type 2C

Detail Description

ETFDH Gene Glutaric acidemia type 2C NGS Genetic DNA Test

Glutaric acidemia type 2C (GA2C) is a rare genetic disorder that affects the body's ability to break down certain amino acids, causing a buildup of toxic substances in the body. This disorder is caused by mutations in the ETFDH gene, which provides instructions for making a protein that is essential for the breakdown of fatty acids and amino acids.

Symptoms of GA2C can vary widely, but may include muscle weakness, low muscle tone, developmental delay, seizures, and problems with vision and hearing. The severity of symptoms can also vary, with some individuals experiencing mild symptoms while others may have severe, life-threatening complications.

Diagnosis of GA2C is typically done through a combination of physical exams, blood tests, and imaging tests. However, genetic testing is the most accurate way to diagnose GA2C and identify the specific mutation causing the disorder.

NGS Genetic DNA Test for GA2C

Next-generation sequencing (NGS) genetic DNA testing is a powerful tool for diagnosing GA2C and other genetic disorders. This type of testing allows for the rapid, accurate sequencing of large portions of the genome, making it possible to identify mutations in the ETFDH gene that may be causing GA2C.

The cost of NGS genetic DNA testing for GA2C can vary depending on the specific testing provider and the extent of the testing needed. However, at DNA Labs India, we offer GA2C NGS genetic DNA testing for a cost of INR 20,000.

Why Choose DNA Labs India for GA2C NGS Genetic DNA Testing?

At DNA Labs India, we are committed to providing high-quality, affordable genetic testing services to individuals and families affected by genetic disorders like GA2C. Our team of expert geneticists and technicians use the latest technologies and techniques to provide accurate and reliable testing results.

In addition, we understand that genetic testing can be a complex and emotional process. That's why we offer personalized support and guidance to our clients throughout the testing process, from sample collection to results interpretation.

Conclusion

If you or a loved one is experiencing symptoms of GA2C, it's important to seek medical attention and consider genetic testing to accurately diagnose the disorder. At DNA Labs India, we offer affordable, reliable NGS genetic DNA testing for GA2C and other genetic disorders. Contact us today to learn more about our testing services and how we can help you.