Test Price
2,800 AED✅ Home Collection Available
RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11 Genetic Test in UAE
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity via ISO 9001:2015 accredited NGS processing.
- Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test teleconsultation for result interpretation and medical decision support.
- Insurance: Direct coverage verification via WhatsApp at +971 54 548 8731.
- Price: 2,800 AED | DHA Facility License: 1143
Test Overview & Methodology
The RMND1 gene NGS test provides definitive molecular diagnosis of combined oxidative phosphorylation deficiency type 11 by sequencing the complete RMND1 coding region and splice junctions. Next-generation sequencing on the Illumina NovaSeq X platform with AI-curated variant annotation ensures detection of pathogenic mutations, including missense, nonsense, frameshift, and splice-site variants. Results are correlated with biochemical and neurological profiles to guide targeted therapy and genetic counselling.
| Parameter | Our RMND1 NGS Test | Conventional Single-Gene Sequencing |
|---|---|---|
| Diagnostic Sensitivity | 99.9% (captures all coding exons ±20 bp) | ~95% (may miss deep intronic variants) |
| Technology | Next-Generation Sequencing (Illumina NovaSeq X) + AI-curated variant annotation | Sanger sequencing |
| Turnaround Time | 3-4 weeks | 6-8 weeks |
| Sample Types | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | Whole Blood only |
Physician Insight & Safety Protocols
“The RMND1 gene test is essential for confirming combined oxidative phosphorylation deficiency type 11 in patients presenting with mitochondrial encephalopathy, hypotonia, and lactic acidosis. This NGS-based assay delivers high-confidence variant detection, but results must always be integrated with clinical, biochemical, and neuroimaging findings. Early genetic confirmation enables timely initiation of cofactor therapy, seizure management, and informed family planning through cascade testing. Clinicians should correlate all positive findings with the patient's metabolic profile and developmental trajectory.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory
Patients under treatment for mitochondrial disease, including anticonvulsants, metabolic modifiers, or vitamin cofactors, should maintain their prescribed regimen without interruption. Any adjustment to therapy must be supervised by the managing neurologist or metabolic specialist. Abrupt discontinuation may precipitate acute metabolic crisis and requires immediate medical evaluation.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Active blood transfusion within the last 2 weeks may interfere with DNA extraction; postpone collection until after the window.
- Exclusion: Severe haemodynamic instability contraindicates home phlebotomy; coordinate sample collection within a hospital setting.
- Emergency Red Flags: New-onset seizures, acute encephalopathy, severe lactic acidosis, or multi-organ failure require immediate emergency care. The test may be performed after clinical stabilisation.
Patient FAQ & Clinical Guidance
1. What is the RMND1 gene test used for?
This NGS test identifies disease-causing mutations in the RMND1 gene to confirm a clinical diagnosis of combined oxidative phosphorylation deficiency type 11. The assay is indicated for patients with unexplained mitochondrial encephalopathy, hypotonia, developmental delay, and elevated lactate. Confirmation enables targeted therapy, genetic counselling, and recurrence risk assessment for family planning.
2. How should I prepare for the RMND1 gene test?
No fasting is required. Avoid strenuous physical exertion for 24 hours before sample collection. Inform the phlebotomist of any recent blood transfusions, as this may affect DNA yield. Continue all prescribed medications unless directed otherwise by your physician.
3. How long does it take to receive RMND1 test results?
Results are typically available within 3 to 4 weeks from the date the sample reaches our laboratory. A secure electronic report is delivered via a HIPAA-compliant patient portal, and a post-test teleconsultation with a genetics specialist is scheduled to review findings and implications.
4. What sample types are accepted for the RMND1 test?
Acceptable sample types include peripheral whole blood collected in EDTA tubes, extracted DNA of sufficient quality and quantity, or dried blood spot on FTA card. Our VIP mobile phlebotomy service can collect blood at your home between 8 AM and 11 PM daily with full cold-chain integrity.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance
This genetic test is performed at DNA Labs UAE under the regulatory oversight of the Dubai Healthcare Authority (DHA). All clinical operations comply with 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 genetic data is encrypted, access-controlled, and processed solely for diagnostic purposes with explicit written consent. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory is ISO 9001:2015 certified and subject to regular DHA quality audits.
DHA Facility License Number: 1143 | Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Clinical & Logistical Metadata
| Test Name | RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11 NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3-4 weeks from sample receipt |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (Illumina NovaSeq X) with AI-curated variant annotation |
| ICD-10-CM Code | E74.81 |
| LOINC Code | 21659-2 |
| DHA Facility License & Laboratory Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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