Test Price
2,800 AED✅ Home Collection Available
PNPO Gene Pyridoxamine 5'-Phosphate Oxidase Deficiency Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
فحص جين PNPO و نقص أكسيداز البيريدوكسامين-5'-فوسفات بتقنية NGS في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary – UAE Genetic Testing Authority
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139). We utilize high-coverage Next-Generation Sequencing with LC-MS/MS verification of critical variants to ensure no false-negative or false-positive calls for PNPO-related neonatal epileptic encephalopathy.
Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy. DNA FTA cards, whole blood, or extracted DNA samples are transported at 2–8°C with real-time temperature monitoring, adhering to UAE PDPL and Federal Decree-Law No. 41 of 2024.
Clinical Guidance: Inclusive Telephonic Post-Test Clinical Guidance in result interpretation by our DHA-licensed genetic counsellors. Direct line for your referring physician to discuss pathogenic/likely pathogenic findings and urgent clinical correlation.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731. We check pre-authorization for leading UAE insurers and provide a detailed invoice with ICD-10-CM codes (E88.8, G40.309, Z15.09) for reimbursement.
Clinical Overview
The PNPO gene test analyses the entire coding sequence for mutations causing pyridoxamine 5'-phosphate oxidase deficiency, a treatable metabolic epilepsy that presents in infancy with therapy-resistant seizures. Diagnosing this disorder early enables life-saving pyridoxal-5-phosphate (PLP) therapy and stops neurological decline. يكشف فحص جين PNPO عن الطفرات المسببة لنقص إنزيم الأكسيداز المسؤول عن تحويل البيريدوكسين إلى شكله النشط، مما يوجه العلاج بفيتامين ب6 الفعّال.
| Feature | Our Test (يورولايب) | Closest Alternative |
|---|---|---|
| Analytical Precision | 99.9% sensitivity, full exon coverage with 100x depth | Sanger sequencing of selected exons, ~90% coverage |
| Methodology | NGS (Illumina® platform) + LC-MS/MS confirmatory assay | Sanger sequencing only, no functional confirmation |
| Turnaround Time | 3–4 Weeks (expedited available) | 6–8 Weeks |
| Post-Test Genetic Counselling | Included (telephonic, DHA-licensed counsellor) | Often not provided |
Physician Insight & Safety Protocol
Dr. PRABHAKAR REDDY (DHA License: 61713011): "PNPO deficiency is a profoundly treatable cause of neonatal epileptic encephalopathy – when diagnosed early, high-dose PLP can completely stop seizures and normalise neurodevelopment. Every infant with drug-resistant seizures should have this test urgently, but families must understand that a negative result does not rule out other vitamin-responsive epilepsies; the interpretation must be correlated with ALDH7A1 testing and metabolic profiling. I urge clinicians not to delay therapy while awaiting results when clinical suspicion is high."
⚕️ Medication Warning
Do not discontinue or adjust prescribed anticonvulsants, pyridoxine, or pyridoxal-5-phosphate without consulting your doctor. Abrupt changes may trigger status epilepticus. Follow your physician’s guidance precisely.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to provide informed consent for genetic testing; patient currently receiving high-dose biotin or vitamin B6 supplements that may alter biochemical markers (must be disclosed); acute febrile illness or sepsis – sample collection should be postponed until stabilisation.
- Post-Test ER Red Flags: If the child develops prolonged seizure (>5 min), respiratory depression, or loss of consciousness after starting PLP therapy, proceed immediately to the nearest Emergency Department.
- Sample Rejection: Haemolysed blood, clotted DNA FTA cards, or improperly stored specimen will trigger a recollection at no additional cost, but delay may impact clinical urgency.
Patient FAQ & Clinical Guidance
1. What is the PNPO gene test and why is it important for my child?
The PNPO genetic test identifies mutations in the enzyme that activates vitamin B6, directly confirming a treatable cause of severe infantile epilepsy and enabling immediate PLP therapy. Without this test, infants may suffer irreversible brain damage from uncontrolled seizures, while a positive diagnosis allows targeted replacement of the active form of vitamin B6, often leading to seizure freedom and normal development. The test analyses the entire gene by Next-Generation Sequencing from a simple blood sample or DNA FTA card.
فحص جين PNPO يحدد الطفرات المسؤولة عن نقص الإنزيم المحوِّل للبريدوكسين إلى فوسفات البيريدوكسال النشط، مما يسمح ببدء العلاج الفموي بفوسفات البيريدوكسال ومنع النوبات المهددة للحياة.
2. How is the test performed and what samples are accepted?
The test requires a blood draw or a painless FTA card spot; our VIP phlebotomist visits your home across all Emirates from 8 AM to 11 PM and transports the sample under strict cold-chain conditions. We accept whole blood (EDTA tube), extracted DNA, or one drop of blood on an FTA card, which is ideal for neonates. The genetic material is then processed by NGS technology with 100x average read depth, ensuring detection of even low-level mutations. A pre-test genetic counselling session is mandatory to chart a family pedigree and explain possible outcomes.
يتم سحب عينة دم من الوريد أو وضع قطرة دم على بطاقة FTA في المنزل بسهولة، ثم يُحلل الحمض النووي بتقنية التسلسل الجيني المتطور للكشف عن الطفرات.
3. What does a positive result mean and what are the next steps?
A positive result reveals a disease-causing PNPO mutation, diagnosing pyridoxamine 5'-phosphate oxidase deficiency and guiding your neurologist to prescribe high-dose pyridoxal-5-phosphate immediately, which typically resolves seizures within days. You will receive a detailed report with the specific genetic variant, its inheritance pattern (autosomal recessive), and a telephonic session with our DHA-licensed genetic counsellor to discuss implications for siblings and future pregnancies. Management includes lifelong PLP therapy and regular monitoring of neurodevelopment. A positive result also allows prenatal diagnosis for family planning.
النتيجة الإيجابية تعني تأكيد نقص الأكسيداز، فيبدأ طبيب الأعصاب بإعطاء فوسفات البيريدوكسال بجرعات عالية مما يوقف التشنجات غالباً في أيام، مع متابعة استشارة وراثية للعائلة.
Pre- Requirements
A clinical history of seizures and metabolic suspicion must be provided. A genetic counselling session to draw a pedigree and discuss autosomal recessive inheritance is mandatory before specimen collection. Patients should not be on high-dose biotin or pyridoxine supplements in the last 48 hours unless medically required. If unable to discontinue, inform the laboratory.
Sample Types: Whole Blood (EDTA), Extracted DNA, or One drop Blood on FTA Card (ideal for neonates).
Turnaround Time: 3 to 4 Weeks. Expedited reporting may be available for additional fee.
Laboratory Facility License No.: 9834453. ISO 9001:2015 Certification INT/EGQ/2509DA/3139. All testing complies with Federal Decree-Law No. 41 of 2024, UAE PDPL, and CDS Law 2026 (minors’ genetic testing requires legal guardian consent).
Direct Billing Insurance Verification: WhatsApp +971 54 548 8731
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Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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All reports reviewed by DHA-Certified physicians