PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency NGS Genetic Test
Short Name: PNPO Gene Test
Also known as: PNPO Deficiency, PNPO-related epilepsy
PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose PNPO gene deficiency through genetic analysis, confirm clinical suspicion based on symptoms like seizures or developmental delay, guide treatment with vitamin B6, and facilitate genetic counseling for affected families.
- Test Code
- 2221
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide detailed clinical and family history. Avoid blood transfusions for at least 4 weeks prior. Ensure informed consent is obtained.
Method: Venipuncture
Laboratory Analysis
Blood draw by trained phlebotomist. FTA card collection if using dried blood spot.
Report Delivery
Apply pressure to puncture site. Store samples per lab guidelines.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To diagnose PNPO gene deficiency through genetic analysis, confirm clinical suspicion based on symptoms like seizures or developmental delay, guide treatment with vitamin B6, and facilitate genetic counseling for affected families.
How to Prepare
- Fast for 4 hours if specified, though not mandatory for this test
- Use aseptic technique for blood collection
- Label samples with patient ID and test name
- Ship at ambient temperature within 24 hours
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is vital for early identification and management of PNPO deficiency, especially in families with a history of neonatal seizures or developmental issues."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted samples
- Improper labeling or storage
Understanding Your Results
Pathogenic variant detected
Confirms PNPO deficiency; start vitamin B6 treatment and genetic counseling.
Variant of uncertain significance
May require functional studies or family testing for clarification.
No pathogenic variant detected
PNPO deficiency unlikely; consider other metabolic disorders.
Carrier status
Individual carries one variant; risk for offspring if both parents are carriers.
If test results are positive or uncertain, or if symptoms persist or worsen despite treatment. Always consult for personalized management.
Limitations
- ⚠May not detect all rare variants or structural changes
- ⚠Requires clinical correlation for diagnosis
- ⚠Genetic counseling recommended for interpretation
Risks & Considerations
- ●Minor bruising or infection at blood draw site
- ●Emotional impact of genetic results
- ●Need for further testing
Interfering Factors
- ●Hemolyzed blood samples
- ●Contaminated DNA extraction
- ●Recent blood transfusions
Compare With Similar Tests
| Test | PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency NGS Genetic Test | Biochemical Vitamin B6 Test | Whole Exome Sequencing | MRI Brain Scan | Sanger Sequencing |
|---|---|---|---|---|---|
| Comparison | PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency NGS Genetic Test |
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