PEPD Gene Prolidase Deficiency NGS Genetic DNA Test
Introduction to the Test
The PEPD Gene Prolidase Deficiency NGS Genetic DNA Test is a specialized genetic test that detects mutations in the PEPD gene, responsible for encoding the enzyme prolidase. This enzyme plays a critical role in the metabolism of proline, an amino acid essential for protein synthesis. Prolidase deficiency can lead to a range of metabolic disorders, making this test vital for diagnosis and management.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to identify specific genetic mutations associated with prolidase deficiency. By analyzing the PEPD gene, the test provides crucial information about the genetic basis of metabolic disorders linked to this deficiency.
Who Should Consider This Test?
Individuals who exhibit symptoms of metabolic disorders such as:
- Chronic skin lesions
- Recurrent infections
- Growth delays in children
Additionally, those with a family history of prolidase deficiency or related metabolic disorders should consider this test. A genetic counseling session is recommended to draw a pedigree chart of affected family members before testing.
Benefits of Taking the Test
- Early diagnosis of prolidase deficiency, allowing for timely intervention.
- Informed family planning for those with a family history of metabolic disorders.
- Personalized management strategies based on genetic insights.
- Access to support and resources for affected individuals and families.
Understanding Your Results
Results from the PEPD Gene Prolidase Deficiency NGS Genetic DNA Test will indicate whether mutations are present in the PEPD gene. A positive result confirms the diagnosis of prolidase deficiency, while a negative result suggests the absence of the condition. It is essential to discuss your results with a healthcare professional to understand their implications fully.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PEPD Gene Prolidase Deficiency NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today!
We have branches across Kenya and offer home sample collection services for your convenience. To book your PEPD Gene Prolidase Deficiency NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
Turnaround time for results is approximately 3 to 4 weeks. Sample types accepted include blood, extracted DNA, or one drop of blood on an FTA card.
