RPIA Gene Ribose 5-Phosphate Isomerase Deficiency NGS Genetic DNA Test
Introduction
The RPIA Gene Ribose 5-Phosphate Isomerase Deficiency NGS Genetic DNA Test is a specialized diagnostic tool designed to identify mutations in the RPIA gene, which can lead to ribose 5-phosphate isomerase deficiency, a rare metabolic disorder. Understanding this genetic condition is vital for early diagnosis and management, as it can significantly impact a patient’s quality of life.
What the Test Measures
This test measures the presence of specific genetic mutations in the RPIA gene. By employing Next-Generation Sequencing (NGS) technology, the test provides a comprehensive analysis of the genetic material, allowing for accurate detection of any abnormalities that may lead to metabolic disorders.
Who Should Consider This Test?
Individuals who may benefit from this test include:
- Those experiencing symptoms of metabolic disorders, such as fatigue, developmental delays, or unexplained health issues.
- Individuals with a family history of ribose 5-phosphate isomerase deficiency or related metabolic disorders.
- Patients referred by a general physician or genetic counselor for further evaluation.
Benefits of Taking the Test
Taking the RPIA Gene Ribose 5-Phosphate Isomerase Deficiency NGS Genetic DNA Test offers numerous benefits:
- Early diagnosis of potential metabolic disorders.
- Informed decision-making regarding treatment options and lifestyle changes.
- Ability to provide targeted genetic counseling and support for affected family members.
- Peace of mind for patients and their families through understanding genetic risks.
Understanding Your Results
Once the test is completed, results will be provided in a detailed report. It is crucial to discuss these results with a healthcare provider or genetic counselor to understand their implications fully. They can help interpret the findings and guide further steps based on individual health needs.
Test Pricing
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 40,000 |
| Regular Price | 56,000 |
Sample Type and Pre-Test Instructions
The sample type required for this test includes:
- Blood or Extracted DNA
- One drop of Blood on FTA Card
Prior to the test, it is recommended to have a clinical history of the patient reviewed and to undergo a genetic counseling session to draw a pedigree chart of family members affected by ribose 5-phosphate isomerase deficiency.
Book Your Test Today!
We have branches across all major cities in Kenya and offer a home sample collection service for your convenience. To book the RPIA Gene Ribose 5-Phosphate Isomerase Deficiency NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
