Test Price
2,800 AED✅ Home Collection Available
PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PDP1 Gene NGS Test screens for pathogenic variants in the pyruvate dehydrogenase phosphatase 1 gene, confirming the rare inherited metabolic disorder pyruvate dehydrogenase phosphatase deficiency. This test is recommended by General Physicians, Primary Care Doctors, and Medical & PhD Researchers to rule out or confirm the condition when clinical signs of lactic acidosis, neurological regression, or family history suggest a diagnosis.
| Feature | Our PDP1 NGS Test (Insurance‑Covered) | Whole Exome Sequencing (WES) |
|---|---|---|
| Precision | 99.9% sensitivity for targeted PDP1 variants | ~85‑90% analytical sensitivity, broader incidental findings |
| Method | NGS + Sanger confirmation for every pathogenic call | Exome‑wide NGS only, no routine confirmation |
| Speed | 3–4 weeks | 6–8 weeks |
Physician Insight & Safety Protocols
“As a clinical geneticist specializing in inherited metabolic disorders, I emphasize that this targeted NGS test provides definitive confirmation of PDP1 deficiency. However, results must always be interpreted alongside biochemical markers, MRI findings, and the complete family pedigree. Genetic counseling prior to and after testing is mandatory for informed decision‑making.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory Notice
DO NOT discontinue any prescribed medication without consulting your treating physician.
Exclusion Criteria & ER Red Flags
- Exclusion Criteria: Individuals under 18 years without the legal guardian’s written consent (per Federal Decree‑Law No. 4 of 2016 on Medical Liability); patients unable to provide a biological sample (blood, extracted DNA, or FTA card).
- Emergency Red Flags: If the patient develops rapid, labored breathing, profound lethargy, uncontrollable vomiting, or altered consciousness, seek immediate emergency medical attention. These may indicate severe lactic acidosis requiring urgent intervention.
Patient FAQ & Clinical Guidance
1. What is the PDP1 gene test used for?
The PDP1 gene NGS test detects mutations causing pyruvate dehydrogenase phosphatase deficiency, a rare disorder marked by lactic acidosis and neurological impairment. This analysis helps confirm a clinical diagnosis, guide metabolic management, and inform family planning.
2. How is the sample collected for this genetic test?
A small blood sample, extracted DNA, or a single drop of blood on an FTA card is collected during a comfortable at‑home visit by our DHA‑licensed phlebotomist. The entire cold‑chain process preserves DNA integrity from collection to ISO‑certified laboratory analysis.
3. How long will it take to receive the results?
Results are typically released within 3 to 4 weeks, accompanied by a comprehensive post‑test genetic counseling session to explain the findings. This turnaround allows rigorous NGS sequencing, bioinformatic analysis, and confirmatory Sanger sequencing.
UAE Regulatory & Data Privacy Adherence
UAE Regulatory Compliance: All genetic testing services strictly adhere to 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. Pre‑genetic counselling and pedigree charting are mandatory before sample collection. Our laboratory operates under DHA Facility License No. 1143 and is accredited to ISO 9001:2015.
Clinical & Logistical Metadata
| Test Name | PDP1 Gene Pyruvate Dehydrogenase Phosphatase Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood, extracted DNA, or FTA card (dried blood spot) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM |
| Methodology Used | Next‑Generation Sequencing (NGS) with Sanger confirmation for all pathogenic variants |
| ICD-10-CM Code | E74.42 (Pyruvate dehydrogenase deficiency) |
| LOINC Code | 21620-7 (PDP1 gene mutation analysis) |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians