Short Description

NGS genetic DNA test detecets for variant and mutation detection in MMUT gene for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

PreTest Information

Clinical History of Patient who is going for MMUT Gene Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Detail Description

MMUT Gene Methylmalonic Aciduria: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

MMUT gene methylmalonic aciduria is a rare genetic disorder caused by the deficiency of the enzyme methylmalonyl-CoA mutase. This enzyme is responsible for breaking down certain amino acids and fatty acids in the body. When the enzyme is deficient, these substances build up in the body, causing a range of symptoms.

Symptoms of MMUT Gene Methylmalonic Aciduria

The symptoms of MMUT gene methylmalonic aciduria can vary from person to person, but some common symptoms include:

• Poor feeding and growth in infants
• Vomiting
• Lethargy
• Hypotonia (low muscle tone)
• Developmental delays
• Seizures
• Coma

These symptoms can be present from birth or may develop later in life.

Diagnosis of MMUT Gene Methylmalonic Aciduria

The diagnosis of MMUT gene methylmalonic aciduria is typically made through genetic testing. This involves analyzing the patient's DNA for mutations in the MMUT gene. In some cases, a blood or urine test may also be used to confirm the diagnosis.

It is important to diagnose MMUT gene methylmalonic aciduria as early as possible, as early treatment can improve outcomes and prevent complications.

NGS Genetic DNA Test Cost for MMUT Gene Methylmalonic Aciduria

The cost of NGS genetic DNA testing for MMUT gene methylmalonic aciduria in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and the extent of the testing required.

While the cost of testing may seem high, early diagnosis and treatment can prevent complications and improve outcomes for patients with MMUT gene methylmalonic aciduria.

Conclusion

MMUT gene methylmalonic aciduria is a rare genetic disorder that can cause a range of symptoms. Early diagnosis through genetic testing is important for improving outcomes and preventing complications. While the cost of testing may seem high, it is worth it to ensure that patients receive the care they need.

At DNA Labs India, we offer NGS genetic DNA testing for MMUT gene methylmalonic aciduria and other genetic disorders. Contact us today to learn more about our testing services.