Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACAT1 gene for Methylacetoacetic aciduria

PreTest Information

Clinical History of Patient who is going for ACAT1 Gene Methylacetoacetic aciduria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylacetoacetic aciduria

Detail Description

ACAT1 Gene Methylacetoacetic aciduria NGS Genetic DNA Test Cost and Symptoms Diagnosis in India

ACAT1 gene methylacetoacetic aciduria is a rare genetic disorder that affects the body's ability to break down certain types of fats. It is caused by mutations in the ACAT1 gene, which provides instructions for making an enzyme called acetyl-CoA acetyltransferase. This enzyme is essential for the breakdown of ketone bodies, which are produced when the body breaks down fat for energy. When there is a mutation in the ACAT1 gene, the enzyme is unable to function properly, leading to a build-up of harmful substances in the body.

Symptoms of ACAT1 Gene Methylacetoacetic Aciduria

The symptoms of ACAT1 gene methylacetoacetic aciduria can vary widely, depending on the severity of the condition and the age of onset. Some common symptoms include:

• Abdominal pain
• Vomiting
• Loss of appetite
• Jaundice
• Developmental delays
• Seizures
• Coma

These symptoms may appear in infancy, childhood, or adulthood, and can range from mild to severe. In some cases, the symptoms may be mistaken for other conditions, making it difficult to diagnose the disorder.

Diagnosis of ACAT1 Gene Methylacetoacetic Aciduria

Diagnosing ACAT1 gene methylacetoacetic aciduria requires a combination of physical exams, blood tests, and genetic testing. A doctor may suspect the condition based on the symptoms and medical history of the patient. Blood tests can measure the levels of ketones and other substances in the blood, which can help diagnose the disorder. Genetic testing can confirm the presence of mutations in the ACAT1 gene, which is necessary for a definitive diagnosis.

NGS Genetic DNA Test for ACAT1 Gene Methylacetoacetic Aciduria

NGS or next-generation sequencing is a type of genetic testing that can be used to identify mutations in the ACAT1 gene. This test is highly sensitive and can detect even small changes in the DNA sequence. It is a useful tool for diagnosing genetic disorders like ACAT1 gene methylacetoacetic aciduria.

Cost of ACAT1 Gene Methylacetoacetic Aciduria NGS Genetic DNA Test in India

The cost of the ACAT1 gene methylacetoacetic aciduria NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the laboratory or healthcare provider conducting the test.

Conclusion

ACAT1 gene methylacetoacetic aciduria is a rare genetic disorder that can cause a range of symptoms, from mild to severe. Diagnosing the disorder requires a combination of physical exams, blood tests, and genetic testing. NGS genetic DNA testing is a highly sensitive tool that can detect mutations in the ACAT1 gene, making it a useful tool for diagnosis. The cost of the test in India is approximately INR 20,000, making it a relatively affordable option for those seeking a diagnosis.

If you suspect that you or a loved one may have ACAT1 gene methylacetoacetic aciduria, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help manage symptoms and improve long-term outcomes.

For more information about ACAT1 gene methylacetoacetic aciduria and genetic testing options in India, contact DNA Labs India today.