PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity Genetic Test
Cost: AED 4400.0
Test Components:
- 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 PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Phosphoribosylpyrophosphate synthetase superactivity.
Test Details:
Phosphoribosylpyrophosphate synthetase 1 (PRPS1) gene superactivity is a rare genetic disorder characterized by overactivity of the PRPS1 enzyme. This enzyme is involved in the production of purine nucleotides, which are essential for DNA and RNA synthesis. The overactivity of PRPS1 leads to an excessive production of purine nucleotides, resulting in high levels of uric acid in the body. This can cause a condition called gout, which is characterized by painful joint inflammation due to the deposition of uric acid crystals.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of an individual’s genes. It allows for the identification of specific genetic variations or mutations that may be associated with certain diseases or conditions. In the case of PRPS1 gene superactivity, NGS genetic testing can be used to identify mutations or variations in the PRPS1 gene that are responsible for the overactivity of the enzyme. This can help in the diagnosis of the condition and provide valuable information for genetic counseling and management of the disorder.
NGS genetic testing involves sequencing the DNA of an individual and comparing it to a reference genome. This allows for the detection of small genetic variations, such as single nucleotide polymorphisms (SNPs) or small insertions/deletions (indels), as well as larger structural variations, such as deletions, duplications, or rearrangements. Overall, NGS genetic testing for PRPS1 gene superactivity can provide important insights into the genetic basis of the disorder, allowing for accurate diagnosis, prognosis, and personalized treatment strategies.
| Test Name | PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity 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 PRPS1 Gene Phosphoribosylpyrophosphate synthetase superactivity NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Phosphoribosylpyrophosphate synthetase superactivity |
| Test Details |
Phosphoribosylpyrophosphate synthetase 1 (PRPS1) gene superactivity is a rare genetic disorder characterized by overactivity of the PRPS1 enzyme. This enzyme is involved in the production of purine nucleotides, which are essential for DNA and RNA synthesis. The overactivity of PRPS1 leads to an excessive production of purine nucleotides, resulting in high levels of uric acid in the body. This can cause a condition called gout, which is characterized by painful joint inflammation due to the deposition of uric acid crystals. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of an individual’s genes. It allows for the identification of specific genetic variations or mutations that may be associated with certain diseases or conditions. In the case of PRPS1 gene superactivity, NGS genetic testing can be used to identify mutations or variations in the PRPS1 gene that are responsible for the overactivity of the enzyme. This can help in the diagnosis of the condition and provide valuable information for genetic counseling and management of the disorder. NGS genetic testing involves sequencing the DNA of an individual and comparing it to a reference genome. This allows for the detection of small genetic variations, such as single nucleotide polymorphisms (SNPs) or small insertions/deletions (indels), as well as larger structural variations, such as deletions, duplications, or rearrangements. Overall, NGS genetic testing for PRPS1 gene superactivity can provide important insights into the genetic basis of the disorder, allowing for accurate diagnosis, prognosis, and personalized treatment strategies. |
