Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACADVL gene for Acyl-CoA very long-chain dehydrogenase deficiency

PreTest Information

Clinical History of Patient who is going for ACADVL Gene Acyl-CoA very long-chain dehydrogenase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Acyl-CoA very long-chain dehydrogenase deficiency

Detail Description

ACADVL Gene Acyl-CoA Very Long-Chain Dehydrogenase Deficiency NGS Genetic DNA Test

ACADVL gene Acyl-CoA very long-chain dehydrogenase deficiency is a rare genetic disorder that affects the body's ability to break down long-chain fatty acids for energy. This disorder is caused by mutations in the ACADVL gene, which provides instructions for making an enzyme called acyl-CoA dehydrogenase.

People with ACADVL gene Acyl-CoA very long-chain dehydrogenase deficiency have a reduced ability to break down long-chain fatty acids, which can cause a range of symptoms, including muscle weakness, low blood sugar levels, liver problems, and heart abnormalities.

Symptoms of ACADVL Gene Acyl-CoA Very Long-Chain Dehydrogenase Deficiency

The symptoms of ACADVL gene Acyl-CoA very long-chain dehydrogenase deficiency can vary widely from person to person, and some people may not experience any symptoms at all. However, common symptoms of this disorder include:

• Muscle weakness and fatigue
• Low blood sugar levels
• Abnormal liver function
• Enlarged liver
• Heart abnormalities
• Developmental delays
• Failure to thrive in infants

If left untreated, ACADVL gene Acyl-CoA very long-chain dehydrogenase deficiency can lead to serious complications, including liver failure, heart failure, and coma.

Diagnosis of ACADVL Gene Acyl-CoA Very Long-Chain Dehydrogenase Deficiency

ACADVL gene Acyl-CoA very long-chain dehydrogenase deficiency is typically diagnosed through a combination of clinical evaluation, genetic testing, and biochemical analysis. Doctors may perform a physical exam and order blood tests to check for elevated levels of long-chain fatty acids and abnormal liver function.

Genetic testing is also used to confirm a diagnosis of ACADVL gene Acyl-CoA very long-chain dehydrogenase deficiency. This test looks for mutations in the ACADVL gene, which can be detected through next-generation sequencing (NGS) technology.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for ACADVL gene Acyl-CoA very long-chain dehydrogenase deficiency can vary depending on the testing facility and location. In India, the cost of this test is typically around INR 20,000.

Treatment of ACADVL Gene Acyl-CoA Very Long-Chain Dehydrogenase Deficiency

There is currently no cure for ACADVL gene Acyl-CoA very long-chain dehydrogenase deficiency, but there are treatments that can help manage symptoms and prevent complications. Treatment may include a low-fat, high-carbohydrate diet, medications to control blood sugar levels, and supplements to support liver function.

It is important for people with ACADVL gene Acyl-CoA very long-chain dehydrogenase deficiency to work closely with their healthcare providers to develop a comprehensive treatment plan and monitor their condition over time.

Conclusion

ACADVL gene Acyl-CoA very long-chain dehydrogenase deficiency is a rare genetic disorder that can cause a range of symptoms, including muscle weakness, low blood sugar levels, liver problems, and heart abnormalities. The disorder is typically diagnosed through a combination of clinical evaluation, genetic testing, and biochemical analysis.

An NGS genetic DNA test for ACADVL gene Acyl-CoA very long-chain dehydrogenase deficiency can cost around INR 20,000 in India. While there is currently no cure for this disorder, there are treatments available to manage symptoms and prevent complications.

If you suspect that you or a loved one may have ACADVL gene Acyl-CoA very long-chain dehydrogenase deficiency, it is important to speak with a healthcare provider as soon as possible to receive a proper diagnosis and begin treatment.