Short Description

NGS genetic DNA test detecets for variant and mutation detection in ETFA gene for Acyl-CoA multiple dehydrogenase deficiency

PreTest Information

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

Detail Description

ETFA Gene Acyl-CoA Multiple Dehydrogenase Deficiency NGS Genetic DNA Test: Symptoms, Diagnosis and Cost

Acyl-CoA multiple dehydrogenase deficiency (MADD) is a rare genetic disorder that affects the body's ability to break down certain fats and proteins for energy. This condition is caused by mutations in the ETFA gene, which provides instructions for making a protein that is essential for energy production in cells.

NGS genetic DNA testing is a powerful tool for identifying the mutations in the ETFA gene that cause MADD. This test can help diagnose the condition and guide treatment decisions. In this article, we will discuss the symptoms of MADD, how it is diagnosed, and the cost of the ETFA gene acyl-CoA multiple dehydrogenase deficiency NGS genetic DNA test in India.

Symptoms of ETFA Gene Acyl-CoA Multiple Dehydrogenase Deficiency

The symptoms of MADD can vary widely from person to person, but typically appear in infancy or early childhood. Some common signs and symptoms of MADD include:

• Weakness and muscle pain
• Low muscle tone (hypotonia)
• Poor feeding and failure to thrive
• Developmental delays
• Seizures
• Enlarged liver (hepatomegaly) and spleen (splenomegaly)
• Respiratory problems
• Abnormal heart rhythms
• Coma or sudden death in severe cases

These symptoms can be caused by a variety of factors, so it is important to see a doctor if you or your child is experiencing any of these symptoms. A genetic test can confirm or rule out a diagnosis of MADD.

Diagnosis of ETFA Gene Acyl-CoA Multiple Dehydrogenase Deficiency

The diagnosis of MADD typically involves a combination of clinical evaluation, laboratory tests, and genetic testing. If a doctor suspects MADD based on the symptoms, they may order blood tests to check for elevated levels of certain enzymes and amino acids in the blood.

If these tests suggest MADD, the next step is usually genetic testing. NGS genetic DNA testing is the most accurate way to identify mutations in the ETFA gene that cause MADD. This test can analyze all 38 exons of the ETFA gene and detect both common and rare mutations.

If a mutation is identified, the results can help confirm a diagnosis of MADD and guide treatment decisions. Genetic testing can also help identify carriers of the disease, which can be important for family planning.

Cost of ETFA Gene Acyl-CoA Multiple Dehydrogenase Deficiency NGS Genetic DNA Test in India

The cost of the ETFA gene acyl-CoA multiple dehydrogenase deficiency NGS genetic DNA test in India varies depending on the laboratory and location. On average, the cost of this test is around INR 20,000. However, prices may vary based on factors such as the number of genes analyzed, the type of sample collected, and the laboratory's location.

Conclusion

ETFA gene acyl-CoA multiple dehydrogenase deficiency is a rare genetic disorder that can cause serious health problems if left untreated. NGS genetic DNA testing is a powerful tool for diagnosing this condition and guiding treatment decisions. If you or your child is experiencing symptoms of MADD, it is important to see a doctor and consider genetic testing.

At DNA Labs India, we offer a wide range of genetic tests, including the ETFA gene acyl-CoA multiple dehydrogenase deficiency NGS genetic DNA test. Our team of experts can help you understand your test results and provide guidance on treatment options. Contact us today to learn more.