Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACSF3 gene for Combined malonic and methylmalonic aciduria

PreTest Information

Clinical History of Patient who is going for ACSF3 Gene Combined malonic and methylmalonic aciduria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined malonic and methylmalonic aciduria

Detail Description

ACSF3 Gene Combined Malonic and Methylmalonic Aciduria NGS Genetic DNA Test

ACSF3 Gene Combined Malonic and Methylmalonic Aciduria is a rare genetic disorder that affects the breakdown of amino acids and fatty acids. This disorder is caused by mutations in the ACSF3 gene, which provides instructions for making an enzyme called acyl-CoA synthetase family member 3. This enzyme is involved in the breakdown of fatty acids and amino acids in the body.

Symptoms of ACSF3 Gene Combined Malonic and Methylmalonic Aciduria may include developmental delays, seizures, low muscle tone, and feeding difficulties. These symptoms can vary in severity from person to person.

Diagnosis of ACSF3 Gene Combined Malonic and Methylmalonic Aciduria can be made through genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can be used to detect mutations in the ACSF3 gene. This test is highly accurate and can provide results in a relatively short amount of time.

The cost of the ACSF3 Gene Combined Malonic and Methylmalonic Aciduria NGS Genetic DNA Test in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and any additional testing or services that may be required.