MMUT Gene Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Genetic Test
Test Name: MMUT Gene Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Genetic Test
Components: NGS Technology
Price: 4400.0 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 MMUT Gene Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency.
Test Details: MMUT gene methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency is a genetic disorder characterized by the inability to break down certain proteins and fats in the body. This condition is caused by mutations in the MMUT gene, which provides instructions for producing the enzyme methylmalonyl-CoA mutase. Methylmalonyl-CoA mutase is responsible for converting a molecule called methylmalonyl-CoA into another molecule called succinyl-CoA. This conversion is necessary for the breakdown of certain amino acids and fats in the body. Mutations in the MMUT gene lead to a deficiency or malfunctioning of the enzyme, resulting in the accumulation of toxic substances called methylmalonic acid and propionic acid. The buildup of these toxic substances can cause a variety of symptoms, including developmental delays, intellectual disability, failure to thrive, lethargy, vomiting, dehydration, and metabolic acidosis. The severity of the symptoms can vary widely, ranging from mild to severe. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of MMUT gene methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, NGS genetic testing can be used to identify mutations in the MMUT gene that are responsible for the condition. By identifying the specific mutations in the MMUT gene, NGS genetic testing can help with the diagnosis of the condition, provide information about the inheritance pattern, and guide treatment decisions. It can also be used for carrier testing in individuals with a family history of the condition. Overall, NGS genetic testing for MMUT gene methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency plays a crucial role in the accurate diagnosis and management of this genetic disorder.
| Test Name | MMUT Gene Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 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 MMUT Gene Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| Test Details |
MMUT gene methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency is a genetic disorder characterized by the inability to break down certain proteins and fats in the body. This condition is caused by mutations in the MMUT gene, which provides instructions for producing the enzyme methylmalonyl-CoA mutase. Methylmalonyl-CoA mutase is responsible for converting a molecule called methylmalonyl-CoA into another molecule called succinyl-CoA. This conversion is necessary for the breakdown of certain amino acids and fats in the body. Mutations in the MMUT gene lead to a deficiency or malfunctioning of the enzyme, resulting in the accumulation of toxic substances called methylmalonic acid and propionic acid. The buildup of these toxic substances can cause a variety of symptoms, including developmental delays, intellectual disability, failure to thrive, lethargy, vomiting, dehydration, and metabolic acidosis. The severity of the symptoms can vary widely, ranging from mild to severe. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of MMUT gene methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, NGS genetic testing can be used to identify mutations in the MMUT gene that are responsible for the condition. By identifying the specific mutations in the MMUT gene, NGS genetic testing can help with the diagnosis of the condition, provide information about the inheritance pattern, and guide treatment decisions. It can also be used for carrier testing in individuals with a family history of the condition. Overall, NGS genetic testing for MMUT gene methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency plays a crucial role in the accurate diagnosis and management of this genetic disorder. |
