Test Price
2,800 AED✅ Home Collection Available
PDHA1 (PDX1) and PDHX Gene Lacticacidemia Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Clinical Precision: 99.9% diagnostic sensitivity for pathogenic single‑nucleotide variants, small indels, and copy‑number changes in the PDHA1 (PDX1) and PDHX genes through clinical‑grade NGS analysis.
Logistical Excellence: VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM, with ISO‑certified sample transport.
Clinical Guidance: Post‑report tele‑consultation with a consultant medical geneticist to interpret results and guide family planning.
Insurance Verification: Direct coverage check via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PDHA1 (PDX1) and PDHX Gene Lacticacidemia NGS Test screens for pathogenic variants in the two key genes of the pyruvate dehydrogenase complex that cause life‑threatening primary lactic acidosis. Next‑generation sequencing (NGS) detects single‑nucleotide variants, small insertions/deletions, and copy‑number changes with clinical‑grade precision, enabling definitive molecular diagnosis and targeted therapeutic guidance.
| Feature | Our NGS Test (UAE) | Alternative (Enzymatic Assay) |
|---|---|---|
| Method | Next‑Generation Sequencing (NGS) – full gene coverage including intronic regions | Pyruvate dehydrogenase enzyme activity measurement from tissue biopsy |
| Diagnostic Sensitivity | >99% for SNVs, indels & CNVs in PDHA1 and PDHX | Varies by tissue type; cannot identify molecular cause |
| Turnaround Time | 3–4 weeks | Often 6–8 weeks |
| Regulatory Compliance | MOHAP/DHA standards, ISO 9001:2015, Federal Decree-Law No. 45 of 2021 (PDPL) | Variable; limited genomic data protection frameworks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics | DHA Registration ID: 9294403): “Genetic testing for pyruvate dehydrogenase complex deficiency provides definitive molecular confirmation, but results must always be correlated with neonatal screening data, blood lactate/pyruvate ratios, and the complete clinical phenotype. A negative result does not exclude all disease forms; any actionable variant requires verification by a metabolic specialist before clinical decisions are made.”
Advisory Guidance for Patients and Clinicians
⚠️ Important Safety Information
Do not discontinue prescribed therapies — including dichloroacetate, thiamine supplementation, or ketogenic dietary regimens — based solely on this test result without explicit consultation with the referring metabolic specialist. Therapy adjustments must consider the full clinical picture and biochemical profile.
Exclusion Criteria & Red Flags
- Exclusion Criteria: Acute febrile illness, blood transfusion within the prior two weeks, or ongoing haemodialysis — these conditions may compromise DNA yield or cause sample rejection.
- Pre-Test Genetic Counselling Mandate: A formal session to construct a three‑generation pedigree is mandatory before sample collection, consistent with Federal Decree-Law No. 4 of 2016 on Medical Liability and UAE genetic testing standards.
- Emergency Red Flags: If the patient develops sudden lethargy, severe metabolic acidosis (pH < 7.1), seizures, or coma, seek emergency medical attention immediately — do not delay care pending test results.
- Data Privacy: All genomic data are handled under 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.
Patient FAQ & Clinical Guidance
1. What does this genetic test detect, and why is it ordered?
This test identifies pathogenic mutations in the PDHA1 (PDX1) and PDHX genes, which cause pyruvate dehydrogenase complex deficiency — a disorder that leads to severe lactic acidosis, neurological impairment, and multi‑organ failure. Physicians order it when biochemical findings suggest primary lactic acidemia to guide targeted therapy, dietary management, and family screening.
2. Who should consider taking this NGS lacticacidemia test?
Individuals with unexplained chronic lactic acidosis, neonatal metabolic crises, or a family history of pyruvate dehydrogenase deficiency are ideal candidates. Carrier testing for at‑risk relatives and preconception screening for couples with a family history of metabolic disorders are also appropriate after thorough genetic counselling.
3. How is the test performed and how long do results take?
A peripheral EDTA whole blood sample is collected — either at one of our partner clinics or via our VIP mobile phlebotomy service (available daily 8 AM – 11 PM). The laboratory performs clinical‑grade NGS with full coverage of PDHA1 and PDHX coding regions and splice sites. Results are delivered within 3 to 4 weeks in a comprehensive clinical report.
4. Is insurance coverage available for this test?
Coverage depends on your individual insurance policy. We provide direct insurance verification via WhatsApp at +971 54 548 8731. Please have your membership ID and policy documents ready for a quick eligibility check before scheduling the collection.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates under the regulatory framework of the Dubai Health Authority (DHA) and complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all genomic and personal health information. Additionally, Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields governs our digital health infrastructure. Laboratory operations are certified under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). All genetic data are encrypted and stored in ISO‑certified secure infrastructure with restricted access protocols. Clinical validity and safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring informed consent and proper pre‑test counselling.
Clinical & Logistical Metadata
| Test Name | PDHA1 (PDX1) and PDHX Gene Lacticacidemia NGS Panel |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Peripheral EDTA whole blood (3–5 mL) or extracted genomic DNA (≥1 µg) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full gene coding regions, splice sites, and CNV analysis |
| ICD-10-CM Code | E74.81 |
| LOINC Code | 81344-4 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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