PNPO Gene Pyridoxamine 5-Phosphate Oxidase Deficiency NGS Genetic DNA Test
Introduction to the Test
The PNPO Gene Pyridoxamine 5-Phosphate Oxidase Deficiency NGS Genetic DNA Test is a state-of-the-art genetic test designed to diagnose pyridoxamine 5′-phosphate oxidase deficiency. This deficiency is a rare metabolic disorder that can lead to serious health issues if left undiagnosed. By utilizing Next-Generation Sequencing (NGS) technology, this test provides a comprehensive analysis of the PNPO gene, allowing for early detection and management of this condition.
What the Test Measures
This test specifically measures the presence of mutations in the PNPO gene that are associated with pyridoxamine 5′-phosphate oxidase deficiency. By identifying these genetic variations, healthcare providers can better understand the patient’s condition and tailor treatment accordingly.
Who Should Consider This Test
This test is recommended for individuals who exhibit symptoms of metabolic disorders, particularly those related to vitamin B6 metabolism. Risk factors include a family history of metabolic disorders or unexplained neurological symptoms. If you or your child have been experiencing developmental delays, seizures, or other neurological issues, this test may be vital for diagnosis.
Benefits of Taking the Test
- Early diagnosis of metabolic disorders related to pyridoxamine deficiency.
- Guidance for treatment options based on genetic findings.
- Informed family planning through genetic counseling.
- Access to specialized care and management strategies.
Understanding Your Results
Once the test is completed, results will be analyzed and interpreted by our team of genetic specialists. It’s essential to understand that a positive result indicates a mutation in the PNPO gene, while a negative result suggests no detectable mutations. However, further clinical correlation may be necessary for a comprehensive understanding of the results.
Test Name and Price
| Price Type | Price (KSh) |
|---|---|
| Discount Price | 40,000 |
| Regular Price | 56,000 |
Book Your Test Today!
We have branches across Kenya, making it convenient for you to access our services. Our team is ready to assist you with the PNPO Gene Pyridoxamine 5-Phosphate Oxidase Deficiency NGS Genetic DNA Test. Contact us to book your test today or call/WhatsApp us at +254711564616.
Additional Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-Test Instructions: Clinical history of the patient who is going for the test and a genetic counseling session to draw a pedigree chart of family members affected with pyridoxamine 5′-phosphate oxidase deficiency.
