Test Price
2,800 AED✅ Home Collection Available
ETHE1 Gene Ethylmalonic Encephalopathy Genetic Test in Dubai | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
TRUST ✅ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189 Accredited Next‑Generation Sequencing.
🚑 Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM across Dubai and the UAE.
🩺 Clinical Guidance: Telephonic Post‑Test Consultation with a DHA‑registered medical geneticist for comprehensive result interpretation.
💳 Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Compliance: Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) · Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields · ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
Test Overview & Methodology
The ETHE1 Gene Ethylmalonic Encephalopathy NGS Test employs clinical‑grade next‑generation sequencing to comprehensively analyze all coding exons and conserved splice‑site regions of the ETHE1 gene. This molecular assay provides definitive confirmation of ethylmalonic encephalopathy, a rare autosomal recessive neurometabolic disorder caused by impaired mitochondrial sulfur metabolism. Detection of biallelic pathogenic variants establishes the diagnosis, enabling targeted metabolic management, family cascade screening, and informed genetic counseling. Variant interpretation follows the American College of Medical Genetics and Genomics (ACMG) standards for clinical actionability.
| Feature | Our ETHE1 NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Gene Coverage | All coding exons & splice sites | Selected hot‑spot mutations only |
| Analytical Sensitivity | >99.9% | ~95% (limited to known variants) |
| Turnaround Time | 3–4 Weeks | 2–4 Weeks (partial) |
| Variant Interpretation | ACMG‑aligned full clinical report | Basic detection only |
| Sample Types | Whole Blood, Extracted DNA, Dried Blood Spot | Whole Blood |
Physician Insight & Safety Protocols
“Ethylmalonic encephalopathy imposes a heavy clinical burden on affected families. Timely molecular confirmation through comprehensive gene sequencing enables access to targeted metabolic therapies, structured developmental monitoring, and informed recurrence risk counseling for parents. At DNA Labs UAE, we correlate every genomic finding with biochemical and clinical phenotypes, ensuring that each case receives multidisciplinary follow‑up and the compassionate support it requires.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Notice
Do not discontinue any prescribed therapy, dietary supplement, or metabolic formula without explicit direction from your managing physician. Genetic test results complement, but do not replace, ongoing clinical care.
Safety Exclusion Criteria & Urgent Referral Indicators
- Acute febrile illness or active infection may compromise specimen integrity; defer blood collection until the patient is symptom‑free for at least 48 hours.
- Genetic analysis of minors requires explicit written consent from a legally authorized guardian in accordance with UAE personal data protection regulations.
- Urgent red flags: unexplained metabolic acidosis, acute encephalopathy, status epilepticus, or rapid neurological decline — these require immediate emergency evaluation and are not addressed by this molecular test.
Patient FAQ & Clinical Guidance
1. What is the purpose of the ETHE1 genetic test?
The ETHE1 genetic test identifies disease‑causing mutations responsible for ethylmalonic encephalopathy, a rare neurometabolic condition that requires early diagnosis for effective intervention. This NGS‑based assay examines the full coding region of the ETHE1 gene to detect pathogenic variants that disrupt mitochondrial sulfur metabolism. A confirmed molecular result enables tailored metabolic management, seizure control strategies, and informed genetic counseling for at‑risk family members.
2. How is the sample collected and can I receive home collection?
Sample collection is performed via our DHA‑licensed VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection service, available daily from 8 AM to 11 PM across Dubai and the broader UAE. Our certified phlebotomists collect a standard venous whole blood sample, a dried blood spot on an FTA card, or accept previously extracted DNA. All specimens are transported under strict ISO‑compliant cold‑chain protocols to preserve nucleic acid integrity.
3. What is the turnaround time and how will I receive my results?
Results are delivered within 3–4 weeks from sample receipt. Our DHA‑registered molecular geneticists interpret every variant according to ACMG standards and issue a comprehensive clinical report. Each report classifies variants as pathogenic, likely pathogenic, or of uncertain significance. A complimentary telephonic consultation is provided to explain the findings, discuss clinical implications, and outline recommended next steps including specialist referrals.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with the UAE’s data protection and health information governance frameworks. All genetic test data are processed and stored under:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) — governing the collection, processing, and transfer of personal genomic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — regulating health information systems, telemedicine, and digital diagnostic records.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability — governing clinical safety standards, informed consent, and patient rights during diagnostic procedures.
DHA Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE
Clinical & Logistical Metadata
| Test Name | ETHE1 Gene Ethylmalonic Encephalopathy NGS Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, Dried Blood Spot |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Coding & Splice‑Site Analysis |
| ICD-10-CM Code | E72.51 (Ethylmalonic encephalopathy) |
| LOINC Code | 95207-8 (ETHE1 gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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