ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency Genetic Test
Test Name: ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency Genetic Test
Components: ACAD8 gene isobutyryl-CoA dehydrogenase deficiency NGS genetic test
Price: 4400.0 AED
Sample Condition: Blood
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test 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.
Test Details: ACAD8 gene isobutyryl-CoA dehydrogenase deficiency NGS genetic test is a type of genetic test that is used to detect mutations or variations in the ACAD8 gene. This gene encodes for the isobutyryl-CoA dehydrogenase enzyme, which is involved in the breakdown of isobutyryl-CoA, a molecule derived from the metabolism of certain amino acids. Isobutyryl-CoA dehydrogenase deficiency is a rare inherited metabolic disorder characterized by the inability to properly break down isobutyryl-CoA. This can lead to the buildup of toxic metabolites and cause a range of symptoms, including developmental delay, muscle weakness, seizures, and metabolic acidosis. The NGS (Next-Generation Sequencing) genetic test analyzes the DNA sequence of the ACAD8 gene to identify any mutations or variations that may be present. This test can help diagnose isobutyryl-CoA dehydrogenase deficiency and provide valuable information for genetic counseling and management of the condition. It is important to note that genetic testing should be conducted and interpreted by qualified healthcare professionals who specialize in genetics, as the results can have significant implications for individuals and their families.
Test Name | ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Metabolic Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test 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 |
Test Details |
ACAD8 gene isobutyryl-CoA dehydrogenase deficiency NGS genetic test is a type of genetic test that is used to detect mutations or variations in the ACAD8 gene. This gene encodes for the isobutyryl-CoA dehydrogenase enzyme, which is involved in the breakdown of isobutyryl-CoA, a molecule derived from the metabolism of certain amino acids. Isobutyryl-CoA dehydrogenase deficiency is a rare inherited metabolic disorder characterized by the inability to properly break down isobutyryl-CoA. This can lead to the buildup of toxic metabolites and cause a range of symptoms, including developmental delay, muscle weakness, seizures, and metabolic acidosis. The NGS (Next-Generation Sequencing) genetic test analyzes the DNA sequence of the ACAD8 gene to identify any mutations or variations that may be present. This test can help diagnose isobutyryl-CoA dehydrogenase deficiency and provide valuable information for genetic counseling and management of the condition. It is important to note that genetic testing should be conducted and interpreted by qualified healthcare professionals who specialize in genetics, as the results can have significant implications for individuals and their families. |