Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACACA gene for Acetyl-CoA carboxylase deficiency

PreTest Information

Clinical History of Patient who is going for ACACA Gene Acetyl-CoA carboxylase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Acetyl-CoA carboxylase deficiency

Detail Description

ACACA Gene Acetyl-CoA carboxylase deficiency NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Acetyl-CoA carboxylase deficiency is a rare genetic disorder that affects the body's ability to produce energy from food. This disorder is caused by mutations in the ACACA gene, which provides instructions for making an enzyme called acetyl-CoA carboxylase.

Symptoms of Acetyl-CoA carboxylase deficiency

The symptoms of this disorder can vary depending on the severity of the mutation. Some common symptoms include:

• Low muscle tone
• Developmental delays
• Seizures
• Poor feeding
• Frequent infections

Diagnosis of Acetyl-CoA carboxylase deficiency

Diagnosis of this disorder involves a comprehensive evaluation of the patient's medical history, physical examination, and laboratory tests. Genetic testing is the gold standard for the diagnosis of Acetyl-CoA carboxylase deficiency. The NGS Genetic DNA Test is a highly sensitive and specific test that can identify mutations in the ACACA gene. The cost of this test is INR 20,000.

Treatment of Acetyl-CoA carboxylase deficiency

Currently, there is no cure for Acetyl-CoA carboxylase deficiency. Treatment is focused on managing the symptoms and preventing complications. This may include medications to control seizures, physical therapy to improve muscle strength, and dietary modifications to ensure adequate nutrition.

Conclusion

Acetyl-CoA carboxylase deficiency is a rare genetic disorder that can cause a range of symptoms, including developmental delays, seizures, and poor feeding. Genetic testing is the most reliable way to diagnose this disorder, and the NGS Genetic DNA Test is an effective tool for identifying mutations in the ACACA gene. Although there is no cure for this disorder, early diagnosis and treatment can help manage symptoms and improve quality of life for patients.

For more information about genetic testing and DNA labs in India, contact DNA Labs India.