IVD Gene Isovaleric acidemia Genetic Test
Test Name: IVD Gene Isovaleric acidemia Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 3200.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
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 IVD Gene Isovaleric acidemia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Isovaleric acidemia.
Test Details:
IVD gene isoform analysis is a genetic test that uses next-generation sequencing (NGS) technology to analyze the IVD gene for mutations associated with isovaleric acidemia. Isovaleric acidemia is a rare genetic disorder characterized by the inability to break down the amino acid leucine properly, leading to the accumulation of toxic levels of isovaleric acid in the body.
NGS technology allows for the simultaneous analysis of multiple genes, including the IVD gene, in a high-throughput manner. This enables the identification of various mutations and variants within the gene that may be responsible for the development of isovaleric acidemia.
The IVD gene encodes the enzyme isovaleryl-CoA dehydrogenase, which is responsible for breaking down isovaleryl-CoA, a byproduct of leucine metabolism. Mutations in the IVD gene can result in a deficiency or complete absence of this enzyme, leading to the accumulation of isovaleryl-CoA and subsequent isovaleric acidemia.
By analyzing the IVD gene using NGS technology, healthcare professionals can identify specific mutations or variants that may be responsible for isovaleric acidemia in an individual. This information can be used for accurate diagnosis, genetic counseling, and potentially targeted treatment approaches for affected individuals.
Test Name | IVD Gene Isovaleric acidemia Genetic Test |
---|---|
Components | |
Price | 3200.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
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 IVD Gene Isovaleric acidemia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Isovaleric acidemia |
Test Details |
IVD gene isoform analysis is a genetic test that uses next-generation sequencing (NGS) technology to analyze the IVD gene for mutations associated with isovaleric acidemia. Isovaleric acidemia is a rare genetic disorder characterized by the inability to break down the amino acid leucine properly, leading to the accumulation of toxic levels of isovaleric acid in the body. NGS technology allows for the simultaneous analysis of multiple genes, including the IVD gene, in a high-throughput manner. This enables the identification of various mutations and variants within the gene that may be responsible for the development of isovaleric acidemia. The IVD gene encodes the enzyme isovaleryl-CoA dehydrogenase, which is responsible for breaking down isovaleryl-CoA, a byproduct of leucine metabolism. Mutations in the IVD gene can result in a deficiency or complete absence of this enzyme, leading to the accumulation of isovaleryl-CoA and subsequent isovaleric acidemia. By analyzing the IVD gene using NGS technology, healthcare professionals can identify specific mutations or variants that may be responsible for isovaleric acidemia in an individual. This information can be used for accurate diagnosis, genetic counseling, and potentially targeted treatment approaches for affected individuals. |