Test Price
2,800 AEDโ Home Collection Available
PNPO Gene Pyridoxamine 5'-Phosphate Oxidase Deficiency Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139). High-coverage Next-Generation Sequencing with LC-MS/MS verification of critical variants ensures no false-negative or false-positive calls for PNPO-related neonatal epileptic encephalopathy.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all Emirates. Whole blood, FTA cards, or extracted DNA transported at 2โ8ยฐC with real-time temperature monitoring, fully compliant with UAE PDPL and health data protection frameworks.
Clinical Guidance: Inclusive telephonic post-test genetic counselling by our DHA-licensed genetic counsellor. Direct line for referring physicians to discuss pathogenic and likely pathogenic findings with urgent clinical correlation.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731. Pre-authorisation checks for leading UAE insurers with detailed invoices including ICD-10-CM codes for reimbursement.
Test Overview & Methodology
The PNPO gene test analyses the entire coding sequence for mutations causing pyridoxamine 5'-phosphate oxidase deficiency, a treatable metabolic epilepsy presenting in infancy with therapy-resistant seizures. Early diagnosis enables life-saving pyridoxal-5-phosphate therapy and halts neurological decline. The test employs Next-Generation Sequencing with 100x average read depth across all exons, confirmed by LC-MS/MS for functionally relevant variants, ensuring detection of mosaic and low-level mutations that Sanger sequencing may miss.
| Feature | DNA Labs UAE PNPO Test | 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 | 3โ4 Weeks (expedited available) | 6โ8 Weeks |
| Post-Test Genetic Counselling | Included (telephonic, DHA-licensed counsellor) | Often not provided |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403: "PNPO deficiency is one of the few metabolic epilepsies where early genetic confirmation directly transforms prognosis โ high-dose pyridoxal-5-phosphate can abort seizures within days and preserve neurodevelopmental trajectory. Every neonate or infant with drug-resistant seizures warrants urgent PNPO sequencing alongside ALDH7A1 analysis and metabolic profiling. Clinicians should not await results before initiating a therapeutic trial of PLP when clinical suspicion is strong, as delays correlate with poorer cognitive outcomes."
Advisory โ Medication and Clinical Precautions
Medication Advisory
Do not discontinue or adjust prescribed anticonvulsants, pyridoxine, or pyridoxal-5-phosphate without consulting your physician. Abrupt changes may trigger status epilepticus. Always follow your specialist's guidance precisely. Disclose all supplements, particularly high-dose biotin or vitamin B6, prior to sample collection as they may alter biochemical markers.
Exclusion Criteria & Emergency Red Flags
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 โ sample collection should be postponed until stabilisation.
- Post-Test ER Red Flags: If the child develops prolonged seizure lasting more than 5 minutes, respiratory depression, or loss of consciousness after starting PLP therapy, proceed immediately to the nearest Emergency Department.
- Sample Rejection Criteria: Haemolysed blood, clotted DNA FTA cards, or improperly stored specimens will trigger a recollection at no additional cost; however, delays may impact clinical urgency. Strict cold-chain compliance is mandatory.
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.
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 in EDTA tube, extracted DNA, or one drop of blood on an FTA card โ the latter is ideal for neonates. The genetic material is 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.
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 which is 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 enables prenatal diagnosis for family planning.
4. What are the pre-test requirements I need to be aware of?
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 48 hours preceding collection unless medically required; if unable to discontinue, inform the laboratory. Sample types accepted include whole blood in EDTA, extracted DNA, or one drop of blood on an FTA card.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: All testing performed under DHA Facility License Number 1143 and in full accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Minors' genetic testing requires legal guardian consent and is conducted under strict confidentiality safeguards. Laboratory operations are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Data Privacy: All genetic data is encrypted, access-controlled, and stored within UAE jurisdiction. Results are shared only with the ordering physician and the patient or legal guardian. No genetic information is disclosed to third parties without explicit written consent.
Clinical & Logistical Metadata
| Test Name | PNPO Gene Pyridoxamine 5'-Phosphate Oxidase Deficiency Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks (expedited available) |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina platform with LC-MS/MS confirmatory assay |
| ICD-10-CM Code | E88.8, G40.309, Z15.09 |
| LOINC Code | 81248-8 |
| DHA Facility License & Address | License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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