Short Description

NGS genetic DNA test detecets for variant and mutation detection in MMAA gene for Methylmalonic aciduria CblA type

PreTest Information

Clinical History of Patient who is going for MMAA Gene Methylmalonic aciduria CblA type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria CblA type

Detail Description

MMAA Gene Methylmalonic Aciduria CblA Type NGS Genetic DNA Test

Methylmalonic aciduria (MMA) is a rare genetic disorder caused by mutations in the genes responsible for the breakdown of certain amino acids and fatty acids in the body. MMAA gene mutations can result in CblA type MMA, which is one of the subtypes of MMA. MMAA gene mutations can cause a deficiency of the enzyme that converts methylmalonyl-CoA to succinyl-CoA, leading to an accumulation of toxic levels of methylmalonic acid in the body.

Symptoms of MMAA Gene Methylmalonic Aciduria CblA Type

The symptoms of MMAA gene methylmalonic aciduria CblA type can vary from person to person and can range from mild to severe. Common symptoms include:

• Poor feeding and vomiting in infants
• Developmental delays and intellectual disability
• Enlarged liver and spleen
• Low muscle tone
• Seizures
• Abnormal movements
• Failure to thrive
• Acidosis

Diagnosis of MMAA Gene Methylmalonic Aciduria CblA Type

The diagnosis of MMAA gene methylmalonic aciduria CblA type can be confirmed through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can analyze multiple genes simultaneously and can identify mutations in the MMAA gene. NGS genetic DNA testing for MMAA gene methylmalonic aciduria CblA type is a reliable and accurate diagnostic tool that can help in the management of the condition.

Cost of MMAA Gene Methylmalonic Aciduria CblA Type NGS Genetic DNA Test

The cost of MMAA gene methylmalonic aciduria CblA type NGS genetic DNA testing in India is around INR 20,000. The cost may vary depending on the laboratory and the location.

Conclusion

MMAA gene methylmalonic aciduria CblA type is a rare genetic disorder that can cause a range of symptoms. Genetic testing using NGS technology can confirm the diagnosis and help in the management of the condition. The cost of NGS genetic DNA testing for MMAA gene methylmalonic aciduria CblA type is affordable and accessible in India.

If you suspect that you or a loved one may have MMAA gene methylmalonic aciduria CblA type, it is important to consult a healthcare professional for proper diagnosis and treatment.

For more information on MMAA gene methylmalonic aciduria CblA type NGS genetic DNA testing, contact DNA Labs India.