CPS1 Gene Carbamoylphosphate synthetase I deficiency Genetic Test
Test Name: CPS1 Gene Carbamoylphosphate synthetase I deficiency 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 CPS1 Gene Carbamoylphosphate synthetase I deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Carbamoylphosphate synthetase I deficiency.
Test Details
Carbamoylphosphate synthetase I (CPS1) deficiency is a rare genetic disorder that affects the urea cycle, a metabolic pathway responsible for removing ammonia from the body. This deficiency leads to the accumulation of ammonia in the blood, which can be toxic to the brain and other organs.
NGS (Next-Generation Sequencing) is a genetic testing technique that can be used to identify mutations or variants in the CPS1 gene. This test involves sequencing the entire coding region of the gene to look for any changes that may be responsible for the deficiency.
The CPS1 NGS genetic test can help confirm a diagnosis of CPS1 deficiency in individuals with symptoms suggestive of the condition. It can also be used for carrier testing in individuals with a family history of the disorder.
By identifying the specific genetic mutation causing CPS1 deficiency, NGS testing can provide valuable information for genetic counseling and family planning. It can also aid in the development of targeted treatments or interventions for affected individuals.
It is important to note that the CPS1 NGS genetic test is typically performed by specialized laboratories or genetic centers with expertise in rare genetic disorders. A healthcare provider or genetic counselor can help determine if this test is appropriate and guide individuals through the testing process.
| Test Name | CPS1 Gene Carbamoylphosphate synthetase I 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 CPS1 Gene Carbamoylphosphate synthetase I deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Carbamoylphosphate synthetase I deficiency |
| Test Details |
Carbamoylphosphate synthetase I (CPS1) deficiency is a rare genetic disorder that affects the urea cycle, a metabolic pathway responsible for removing ammonia from the body. This deficiency leads to the accumulation of ammonia in the blood, which can be toxic to the brain and other organs. NGS (Next-Generation Sequencing) is a genetic testing technique that can be used to identify mutations or variants in the CPS1 gene. This test involves sequencing the entire coding region of the gene to look for any changes that may be responsible for the deficiency. The CPS1 NGS genetic test can help confirm a diagnosis of CPS1 deficiency in individuals with symptoms suggestive of the condition. It can also be used for carrier testing in individuals with a family history of the disorder. By identifying the specific genetic mutation causing CPS1 deficiency, NGS testing can provide valuable information for genetic counseling and family planning. It can also aid in the development of targeted treatments or interventions for affected individuals. It is important to note that the CPS1 NGS genetic test is typically performed by specialized laboratories or genetic centers with expertise in rare genetic disorders. A healthcare provider or genetic counselor can help determine if this test is appropriate and guide individuals through the testing process. |
