Test Price
2,800 AED✅ Home Collection Available
DNM1L Gene Encephalopathy, Lethal, Due to Defective Mitochondrial and Peroxisomal Fission – Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Rapid Genetic Confirmation with Uncompromising UAE Compliance
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next-Generation Sequencing (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: Complimentary telephonic post-test genetic counselling session with interpretation by a DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
- Regulatory Shield: Full adherence 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.
Test Overview & Methodology
The DNM1L gene test leverages high-depth Next-Generation Sequencing to detect pathogenic variants responsible for an ultra-rare, lethal neonatal encephalopathy caused by defective mitochondrial and peroxisomal fission. In the UAE, this test provides families and physicians with a definitive molecular diagnosis within 3 to 4 weeks, enabling informed reproductive decisions and targeted palliative care.
| Feature | Our NGS Test (DHA-Licensed) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Analytical Sensitivity | >99.9% (single-nucleotide & indels) | ~99.0%, limited to targeted exon |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Methodology | NGS (Illumina® platform) with full gene coverage | Capillary electrophoresis, exon-by-exon |
| UAE Regulatory Status | DHA facility license 1143, ISO 9001:2015 | Often international, unverified local licensing |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I recognise the profound uncertainty families face when a lethal encephalopathy is suspected. This DNM1L gene test delivers a definitive molecular answer, eliminating diagnostic ambiguity and guiding compassionate, evidence-based clinical decisions. Results must always be correlated with the full clinical presentation and family history; a negative finding does not exclude all metabolic or mitochondrial disorders.”
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory – Important Safety Notice
⚠️ Do Not Discontinue Prescribed Medications
Do not alter or stop any prescribed medication for the patient without explicit instruction from the treating physician. Interruption of ongoing therapy may lead to clinical deterioration, particularly in neonates with suspected metabolic crisis.
Patient Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Asymptomatic minors without a documented family history of DNM1L-related disease and without pre-test genetic counselling by a certified genetic counsellor in accordance with UAE federal guidelines.
- Exclusion: Inability to provide informed consent from a legal guardian for minors or from the patient if lacking legal capacity.
- Emergency Red Flag: If the child develops respiratory failure, refractory seizures, or severe metabolic acidosis, seek immediate emergency paediatric care before scheduling the genetic blood draw.
- Counselling Mandate: A pre-test genetic counselling session is mandatory to construct a pedigree chart of family members affected by DNM1L encephalopathy (as per DHA/MOHAP standard).
Patient FAQ & Clinical Guidance
1. What is the DNM1L gene test used for?
This targeted NGS test detects pathogenic variants in the DNM1L gene responsible for lethal neonatal encephalopathy due to defective mitochondrial and peroxisomal fission. It provides a definitive molecular diagnosis for infants presenting with severe neurological deterioration, refractory seizures, and metabolic crisis.
2. How is this genetic test different from routine newborn screening?
This test uses high-depth NGS to directly sequence the entire DNM1L gene, detecting pathogenic mutations that cause lethal encephalopathy, which is not covered by standard newborn screening panels. It offers superior analytical sensitivity and full gene coverage compared to conventional Sanger sequencing.
3. What should I do if the test result is positive?
A positive result confirms the diagnosis; our post-test telephonic genetic counselling session will guide you on prognosis, family planning, and available supportive care options. The Consultant Medical Geneticist will discuss recurrence risks and reproductive choices in detail.
4. Is this test covered by insurance in the UAE?
Many UAE insurers partially or fully cover this DNM1L test when pre-authorized; contact our WhatsApp billing verification at +971 54 548 8731 for a direct eligibility check. We assist with prior approval documentation to streamline the process.
UAE Regulatory & Data Privacy Adherence
- Data Protection: Fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – all genetic data encrypted and stored within UAE sovereign infrastructure.
- Health ICT Law: Adherence to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for secure electronic health records and telemedicine.
- Medical Liability: Clinical safety and patient consent governed by Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring full medicolegal protection for patients and providers.
Clinical & Logistical Metadata
| Test Name | DNM1L Gene Encephalopathy, Lethal, Due to Defective Mitochondrial and Peroxisomal Fission – Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or One Drop of Blood on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina® Platform |
| ICD-10-CM Code | G31.81 |
| LOINC Code | 92860-6 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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