Test Price
2,800 AED✅ Home Collection Available
PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency (Mitochondrial) DNA Test via NGS in UAE | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139).
- 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 for result interpretation provided by a qualified medical professional.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Regulatory compliance: Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) & Federal Law No. 2 of 2019.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) test analyzes the entire PCK2 gene to diagnose mitochondrial phosphoenolpyruvate carboxykinase deficiency — a rare inherited metabolic disorder affecting gluconeogenesis. The assay employs full-gene coverage with LC-MS/MS confirmed bioinformatics, delivering definitive molecular results for clinical decision-making.
| Feature | Our NGS Test | Closest Alternative |
|---|---|---|
| Precision | 99.9% sensitivity — full gene coverage | Sanger sequencing (limited to known hotspots) |
| Method | NGS (LC-MS/MS confirmed bioinformatics) | Single-gene Sanger or targeted panel |
| Turnaround Time | 3–4 Weeks | 4–8 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
"Families investigating rare metabolic conditions often face uncertainty and complex medical decisions. This NGS-based PCK2 test offers comprehensive genomic coverage that can clarify the molecular basis of mitochondrial PEPCK deficiency. However, results must always be interpreted alongside biochemical markers and the full clinical picture. Never initiate or discontinue treatment based solely on genetic findings without a thorough consultation with a qualified clinical geneticist or metabolic specialist."
Medication Advisory
⚠️ Do Not Alter Prescribed Medications
Do not discontinue, adjust, or add any prescribed therapy without prior approval from your treating physician. Genetic test results are diagnostic tools and do not replace ongoing clinical management or emergency medical care.
Exclusion Criteria & Safety Red Flags
Patient Exclusion Checklist
- Pregnant individuals must undergo genetic counselling prior to testing.
- Patients with acute intercurrent illness or recent blood transfusion may require a 2–4 week waiting period.
- Sample integrity is compromised if cold-chain parameters (2–8 °C) are breached or storage is improper.
ER Red Flags:
Seek emergency care immediately for severe hypoglycemia, lactic acidosis, or metabolic crisis.
Patient FAQ & Clinical Guidance
1. What is the PCK2 gene test and who should consider it?
This NGS test sequences the entire PCK2 gene to detect mutations causing mitochondrial phosphoenolpyruvate carboxykinase deficiency. It is indicated for individuals with unexplained hypoglycemia, lactic acidosis, or a family history of metabolic crises. Testing should be directed by a general practitioner or clinical geneticist after a thorough metabolic workup.
2. How accurate is this test and will a repeat be required?
With 99.9% diagnostic sensitivity and ISO 9001:2015 certified processing, the test provides definitive results in the vast majority of cases. Because NGS covers all coding regions and splice sites, a repeat is rarely necessary unless a mosaic or deep intronic variant is suspected. Your physician may order reflex biochemical testing if the genotype remains inconclusive.
3. What sample types are accepted and how is integrity preserved?
We accept whole blood (EDTA), extracted DNA (≥1 µg at 50 ng/µL), or one drop of blood on an FTA card. All specimens are transported via ISO-certified temperature-controlled cold-chain logistics (2–8 °C) from collection to the genomics laboratory, ensuring DNA integrity for whole-gene sequencing even during home collection.
UAE Regulatory & Data Privacy Adherence
Compliance & Accreditation: This test is performed under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). All procedures 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. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genomic data is encrypted, access-controlled, and processed exclusively within UAE jurisdiction.
Clinical & Logistical Metadata
| Test Name | PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency (Mitochondrial) DNA Test via NGS |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) with LC-MS/MS Confirmed Bioinformatics |
| ICD-10-CM Code | E74.89 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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