Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACAD8 gene for Isobutyryl-CoA dehydrogenase deficiency

PreTest Information

Clinical History of Patient who is going for ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Isobutyryl-CoA dehydrogenase deficiency

Detail Description

ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency NGS Genetic DNA Test

ACAD8 gene is responsible for producing an enzyme called Isobutyryl-CoA dehydrogenase, which is essential for breaking down certain amino acids in the body. A deficiency in this enzyme can lead to Isobutyryl-CoA dehydrogenase deficiency, a rare genetic disorder that can cause severe health problems if left untreated.

Symptoms of Isobutyryl-CoA dehydrogenase deficiency

The symptoms of Isobutyryl-CoA dehydrogenase deficiency can vary from person to person. Some common symptoms include:

• Low energy levels
• Poor appetite
• Vomiting
• Dehydration
• Muscle weakness
• Developmental delays
• Seizures
• Coma

Diagnosis of Isobutyryl-CoA dehydrogenase deficiency

Isobutyryl-CoA dehydrogenase deficiency can be diagnosed through a simple blood test. The test looks for elevated levels of certain amino acids in the blood, which can be a sign of the condition. In some cases, genetic testing may be necessary to confirm the diagnosis.

NGS Genetic DNA Test for Isobutyryl-CoA dehydrogenase deficiency

NGS (Next Generation Sequencing) Genetic DNA Test is a state-of-the-art technology that can identify mutations in the ACAD8 gene responsible for Isobutyryl-CoA dehydrogenase deficiency. The test can be performed on a blood sample and provides accurate results within a short period of time.

Cost of NGS Genetic DNA Test for Isobutyryl-CoA dehydrogenase deficiency in India

The cost of NGS Genetic DNA Test for Isobutyryl-CoA dehydrogenase deficiency in India is INR 20,000. The test is available at DNA Labs India, one of the leading genetic testing laboratories in the country.

Conclusion

Isobutyryl-CoA dehydrogenase deficiency is a rare genetic disorder that can cause severe health problems if left untreated. Early diagnosis and treatment can help manage the symptoms and prevent complications. NGS Genetic DNA Test is a reliable and accurate way to identify the condition and can be performed at DNA Labs India at an affordable cost.

If you suspect that you or your child may have Isobutyryl-CoA dehydrogenase deficiency, it is important to consult a healthcare professional and get tested as soon as possible.

For more information about NGS Genetic DNA Test for Isobutyryl-CoA dehydrogenase deficiency and other genetic testing services, please visit DNA Labs India website.