Short Description

NGS genetic DNA test detecets for variant and mutation detection in BCKDK gene for Branched-chain ketoacid dehydrogenase kinase deficiency

PreTest Information

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

Detail Description

BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency NGS Genetic DNA Test cost INR:20000 symptoms diagnosis - DNA Labs India

BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency is a rare genetic disorder that affects the breakdown of proteins in the body. This disorder is caused by mutations in the BCKDK gene, which provides instructions for making an enzyme that is involved in the breakdown of branched-chain amino acids (BCAAs).

When the enzyme is not functioning properly, BCAAs build up in the body and can cause serious health problems. Symptoms of BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency can include developmental delay, intellectual disability, seizures, and movement problems.

Diagnosis

BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency can be diagnosed through genetic testing. Next-generation sequencing (NGS) technology can be used to analyze the BCKDK gene and identify mutations that may be causing the disorder. This test can be performed on a blood or saliva sample.

Cost

The cost of the BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency NGS Genetic DNA Test is INR 20000. This cost may vary depending on the laboratory that performs the test.

Conclusion

BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency is a rare genetic disorder that can cause serious health problems. Genetic testing using NGS technology can be used to diagnose this disorder and identify mutations in the BCKDK gene. The cost of this test is INR 20000.

If you or a loved one is experiencing symptoms of BCKDK Gene Branched-chain ketoacid dehydrogenase kinase deficiency, it is important to speak with a healthcare provider about genetic testing and other available treatment options.

For more information on genetic testing and DNA analysis, contact DNA Labs India today.