Short Description

NGS genetic DNA test detecets for variant and mutation detection in BCAT2 gene for Branched-chain aminotransferase 2 deficiency

PreTest Information

Clinical History of Patient who is going for BCAT2 Gene Branched-chain aminotransferase 2 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Branched-chain aminotransferase 2 deficiency

Detail Description

BCAT2 Gene Branched-chain Aminotransferase 2 Deficiency NGS Genetic DNA Test

BCAT2 Gene Branched-chain Aminotransferase 2 Deficiency is a rare genetic disorder that affects the metabolism of amino acids. It is caused by mutations in the BCAT2 gene, which codes for an enzyme that is involved in the breakdown of branched-chain amino acids (BCAAs).

The symptoms of BCAT2 Gene Branched-chain Aminotransferase 2 Deficiency can vary widely, but typically include developmental delays, intellectual disability, seizures, and muscle weakness. These symptoms can appear in infancy or early childhood, and may worsen over time.

Diagnosis of BCAT2 Gene Branched-chain Aminotransferase 2 Deficiency

Diagnosis of BCAT2 Gene Branched-chain Aminotransferase 2 Deficiency is typically done through genetic testing. Specifically, next-generation sequencing (NGS) genetic DNA testing can identify mutations in the BCAT2 gene that are associated with the disorder. This test is highly accurate and can detect even small mutations in the gene.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for BCAT2 Gene Branched-chain Aminotransferase 2 Deficiency in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and other factors.

Conclusion

If you or a loved one is experiencing symptoms of BCAT2 Gene Branched-chain Aminotransferase 2 Deficiency, it is important to seek medical attention and consider genetic testing. NGS genetic DNA testing can provide an accurate diagnosis and help guide treatment decisions. While the cost of testing may vary, it is a worthwhile investment in your health and well-being.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for BCAT2 Gene Branched-chain Aminotransferase 2 Deficiency. Contact us today to learn more about our testing services and how we can help you.