Short Description

NGS genetic DNA test detecets for variant and mutation detection in AMACR gene for Alpha-methylacyl CoA racemase deficiency

PreTest Information

Clinical History of Patient who is going for AMACR Gene Alpha-methylacyl CoA racemase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Alpha-methylacyl CoA racemase deficiency

Detail Description

AMACR Gene Alpha-methylacyl CoA racemase deficiency NGS Genetic DNA Test cost INR:20000 symptoms diagnosis - DNA Labs India

AMACR Gene Alpha-methylacyl CoA racemase deficiency is a rare genetic disorder that affects the body's ability to metabolize fatty acids. This disorder is caused by a mutation in the AMACR gene, which codes for the alpha-methylacyl-CoA racemase enzyme. The enzyme is involved in the breakdown of branched-chain fatty acids, and a deficiency in the enzyme can lead to the buildup of toxic metabolites in the body.

The symptoms of AMACR Gene Alpha-methylacyl CoA racemase deficiency can vary widely, but may include developmental delays, intellectual disability, seizures, muscle weakness, and liver dysfunction. The disorder is diagnosed through genetic testing, specifically Next Generation Sequencing (NGS) Genetic DNA Test, which can detect mutations in the AMACR gene.

If you suspect that you or your child may have AMACR Gene Alpha-methylacyl CoA racemase deficiency, it's important to seek medical attention as soon as possible. A doctor can perform a physical exam and order genetic testing to confirm the diagnosis.

The cost of NGS Genetic DNA Test for AMACR Gene Alpha-methylacyl CoA racemase deficiency at DNA Labs India is INR 20,000. The test involves analyzing a sample of blood or saliva to look for mutations in the AMACR gene. Results are typically available within a few weeks.

At DNA Labs India, we understand the importance of accurate and timely genetic testing for rare disorders like AMACR Gene Alpha-methylacyl CoA racemase deficiency. Our team of experienced geneticists uses state-of-the-art technology to provide reliable results that can help guide treatment and management decisions. If you have any questions about our services or the testing process, please don't hesitate to contact us.