Short Description

NGS genetic DNA test detecets for variant and mutation detection in AUH gene for 3-methylglutaconic aciduria type 1

PreTest Information

Clinical History of Patient who is going for AUH Gene 3-methylglutaconic aciduria type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-methylglutaconic aciduria type 1

Detail Description

AUH Gene 3-methylglutaconic aciduria type 1 NGS Genetic DNA Test

3-methylglutaconic aciduria type 1 (3-MGA-1) is a rare genetic disorder that affects the body's ability to process certain proteins and fats. It is caused by mutations in the AUH gene, which provides instructions for making an enzyme called 3-methylglutaconyl-CoA hydratase. This enzyme is involved in the breakdown of a specific type of fat called isovaleric acid.

Individuals with 3-MGA-1 have elevated levels of 3-methylglutaconic acid in their urine, which is a hallmark of the condition. Symptoms can vary widely depending on the severity of the disease, but can include developmental delays, muscle weakness, seizures, and vision problems.

Diagnosis

Diagnosis of 3-MGA-1 can be made through a combination of clinical evaluation, biochemical testing, and genetic testing. A blood test can measure the levels of 3-methylglutaconyl-CoA hydratase in the blood, while a urine test can detect elevated levels of 3-methylglutaconic acid. Genetic testing can identify mutations in the AUH gene.

NGS Genetic DNA Test

Next-generation sequencing (NGS) is a powerful tool for genetic testing that allows for the analysis of multiple genes at once. NGS can be used to identify mutations in the AUH gene that are associated with 3-MGA-1. This test can be performed on a blood or saliva sample.

Cost of the Test

The cost of the NGS Genetic DNA Test for AUH Gene 3-methylglutaconic aciduria type 1 in India is approximately INR 20,000.

Conclusion

3-methylglutaconic aciduria type 1 is a rare genetic disorder that can have serious health consequences. Diagnosis of the condition requires a combination of clinical evaluation, biochemical testing, and genetic testing. NGS Genetic DNA Test is a powerful tool for identifying mutations in the AUH gene that are associated with 3-MGA-1. The cost of this test in India is approximately INR 20,000.