PRPS1 Gene Phosphoribosylpyrophosphate Synthetase Superactivity NGS Genetic DNA Test
Introduction
The PRPS1 Gene Phosphoribosylpyrophosphate Synthetase Superactivity NGS Genetic DNA Test is a vital diagnostic tool that helps identify genetic mutations associated with metabolic disorders. This test employs Next-Generation Sequencing (NGS) technology, providing a comprehensive analysis of the PRPS1 gene, which plays a crucial role in nucleotide biosynthesis. Understanding the functionality of this gene is essential for diagnosing conditions that lead to various health complications.
What the Test Measures
This genetic test measures the activity of the PRPS1 gene and detects mutations that may lead to phosphoribosylpyrophosphate synthetase superactivity. Elevated activity of this enzyme can result in metabolic imbalances, leading to significant health issues.
Who Should Consider This Test
Individuals experiencing symptoms related to metabolic disorders or those with a family history of such conditions should consider this test. Symptoms may include:
- Unexplained fatigue
- Neurological issues
- Growth and developmental delays
Risk factors include a family history of metabolic disorders or related genetic conditions, making this test a proactive measure for at-risk individuals.
Benefits of Taking the Test
- Early detection of potential metabolic disorders
- Informed decision-making regarding treatment options
- Guidance for family planning and genetic counseling
- Personalized healthcare tailored to genetic findings
Understanding Your Results
Results from the PRPS1 Gene Phosphoribosylpyrophosphate Synthetase Superactivity NGS Genetic DNA Test will be explained by a qualified genetic counselor. They will provide insights into what the results mean for your health and potential next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PRPS1 Gene Phosphoribosylpyrophosphate Synthetase Superactivity NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, a clinical history of the patient is necessary, along with a genetic counseling session to create a pedigree chart of affected family members.
Book Your Test
We have branches across all major cities in Kenya and offer home sample collection services. To book the PRPS1 Gene Phosphoribosylpyrophosphate Synthetase Superactivity NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
