Test Price
2,800 AED✅ Home Collection Available
DLAT Gene (Pyruvate Dehydrogenase E2 Deficiency) Genetic Test in UAE | 2,800 AED | DHA-Licensed NGS Analysis
Executive Summary & Core Metrics
Our DHA-licensed diagnostic service delivers 99.9% clinical sensitivity for DLAT gene variants through ISO 9001:2015 certified next-generation sequencing. Each case includes mandatory pre-test genetic counselling and a post-result telephonic consultation with a Consultant Medical Geneticist. Home blood collection is available daily from 8 AM to 11 PM via temperature-controlled mobile phlebotomy.
- ✓ Accuracy Guarantee: 99.9% diagnostic sensitivity for sequence-level variants across the DLAT coding region.
- ✓ Premium Logistics: VIP mobile phlebotomy with cold-chain transport from your home – no hospital visit required.
- ✓ Clinical Guidance: Pre-test counselling and post-test interpretation by a DHA-licensed Consultant Medical Geneticist.
- ✓ Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The DLAT gene NGS assay sequences all coding exons and flanking intronic regions to identify pathogenic variants responsible for pyruvate dehydrogenase E2 deficiency. Early molecular diagnosis guides targeted metabolic therapy, including thiamine supplementation and ketogenic dietary intervention, reducing the risk of irreversible neurological injury in affected children.
| Feature | Our Test (NGS) | Closest Alternative |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) | Enzyme Activity Assay (Muscle Biopsy) |
| Diagnostic Sensitivity | 99.9% for sequence variants | ~85% in fresh tissue |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks (often sent abroad) |
| Invasiveness | Blood draw / FTA card | Surgical biopsy |
| Price (AED) | 2,800 | 5,000–8,000 |
| Regulatory Accreditation | ISO 9001:2015 & DHA-Licensed | Variable |
*Comparison based on available regional data. Enzyme activity assay is not routinely offered in the UAE.
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403 — "Genetic testing for DLAT variants must be interpreted alongside clinical presentation and metabolic biomarkers. A negative result does not fully exclude pyruvate dehydrogenase deficiency, as deep intronic or regulatory variants may elude standard NGS capture. I advise families to pursue targeted metabolic screening in parallel with molecular analysis to ensure comprehensive diagnostic clarity and safe therapeutic planning."
Medication Advisory
Do not discontinue prescribed metabolic supplements (thiamine, dichloroacetate, ketogenic therapy) without consulting your physician. Abrupt cessation can provoke acute decompensation.
Test Exclusion Criteria & Emergency Red Flags
- Non-Consent: Minors without legal guardian consent per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Recent Transfusion: Allogeneic blood products within 120 days may confound germline results.
- Active Febrile Illness: Defer non-urgent phlebotomy to avoid haemodynamic stress.
- Seek emergency care if the patient develops sudden lethargy, persistent vomiting, uncontrollable seizures, or loss of consciousness—these may signal a metabolic crisis.
Patient FAQ & Clinical Guidance
1. What is the DLAT gene and its role in Pyruvate Dehydrogenase E2 deficiency?
Key Insight: The DLAT gene encodes the E2 subunit of the pyruvate dehydrogenase complex, essential for converting food into energy; pathogenic variants lead to severe lactic acidosis and progressive neurological decline if untreated.
2. How should I prepare for the DLAT genetic test?
Key Insight: No fasting or medication change is required, but a mandatory pre-genetic counselling session will explain inheritance patterns and the impact of possible outcomes on your family.
3. What happens if a pathogenic variant is identified?
Key Insight: A positive result activates cascade screening for at-risk relatives, enables personalized metabolic and dietary intervention, and connects you with UAE specialist care to prevent irreversible damage.
UAE Regulatory & Data Privacy Adherence
- Genetic testing consent and medical liability governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Patient genomic data is de-identified, encrypted, and stored on DHA-approved servers in compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health information handling adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Laboratory accreditation: ISO 9001:2015 Certificate INT/EGQ/2509DA/3139.
Clinical & Logistical Metadata
| Test Name | DLAT Gene (Pyruvate Dehydrogenase E2 Deficiency) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood / FTA Card – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM – 11 PM) |
| Methodology Used | Next Generation Sequencing (NGS) |
| ICD-10-CM Code | E74.4 |
| LOINC Code | 94248-9 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians