ASS1 Gene Citrullinemia Genetic Test
Test Name: ASS1 Gene Citrullinemia Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
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 ASS1 Gene Citrullinemia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Citrullinemia.
Test Details
The ASS1 gene is responsible for producing the enzyme argininosuccinate synthase 1, which plays a crucial role in the urea cycle. Mutations in the ASS1 gene can lead to a rare genetic disorder called citrullinemia. Citrullinemia is an autosomal recessive disorder characterized by the inability to break down the amino acid citrulline, leading to its accumulation in the blood and tissues. This can result in the buildup of ammonia, which is toxic to the body, particularly the brain.
Symptoms of citrullinemia can include poor feeding, vomiting, lethargy, seizures, and developmental delay.
Next-generation sequencing (NGS) genetic testing is a technique used to analyze multiple genes simultaneously and identify mutations or variants that may be associated with a particular condition. In the case of citrullinemia, NGS genetic testing can be used to identify mutations in the ASS1 gene that may be causing the disorder.
NGS genetic testing involves sequencing the DNA of an individual and comparing it to a reference genome to identify any variations or mutations. This can help in the diagnosis of citrullinemia and provide valuable information for genetic counseling and family planning.
Overall, NGS genetic testing for the ASS1 gene in citrullinemia is a valuable tool for identifying mutations and confirming a diagnosis. It can also help in the management and treatment of the disorder by providing information about the specific mutation and its implications for the individual.
| Test Name | ASS1 Gene Citrullinemia 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 ASS1 Gene Citrullinemia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Citrullinemia |
| Test Details |
The ASS1 gene is responsible for producing the enzyme argininosuccinate synthase 1, which plays a crucial role in the urea cycle. Mutations in the ASS1 gene can lead to a rare genetic disorder called citrullinemia. Citrullinemia is an autosomal recessive disorder characterized by the inability to break down the amino acid citrulline, leading to its accumulation in the blood and tissues. This can result in the buildup of ammonia, which is toxic to the body, particularly the brain. Symptoms of citrullinemia can include poor feeding, vomiting, lethargy, seizures, and developmental delay. Next-generation sequencing (NGS) genetic testing is a technique used to analyze multiple genes simultaneously and identify mutations or variants that may be associated with a particular condition. In the case of citrullinemia, NGS genetic testing can be used to identify mutations in the ASS1 gene that may be causing the disorder. NGS genetic testing involves sequencing the DNA of an individual and comparing it to a reference genome to identify any variations or mutations. This can help in the diagnosis of citrullinemia and provide valuable information for genetic counseling and family planning. Overall, NGS genetic testing for the ASS1 gene in citrullinemia is a valuable tool for identifying mutations and confirming a diagnosis. It can also help in the management and treatment of the disorder by providing information about the specific mutation and its implications for the individual. |