Test Price
2,800 AEDโ Home Collection Available
NFU1 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 1 (MMDS1) Genetic Test in Dubai, UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
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 Clinical Guidance for result interpretation by a DHA-licensed Consultant Medical Geneticist.
Insurance: Direct Billing Verification available โ send your policy via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This targeted next-generation sequencing (NGS) test analyzes the entire coding region and exon-intron boundaries of the NFU1 gene. It is designed to detect pathogenic variants responsible for Multiple Mitochondrial Dysfunctions Syndrome Type 1 (MMDS1), a severe neurometabolic disorder typically presenting in infancy with hypotonia, seizures, rapid neurodegeneration, and early childhood lethality. Definitive molecular diagnosis is critical for accurate prognosis, guiding supportive management, and enabling informed family planning options. Our focused single-gene panel provides superior depth and coverage compared to broader genomic assays for this specific indication.
| Parameter | Our NFU1 NGS Test | Closest Alternative (WES) |
|---|---|---|
| Precision | 100% coverage of NFU1 exons ยฑ20 bp flanking introns | ~85-90% coverage; may miss deep intronic or regulatory variants |
| Method | NGS (Illumina® platform) with Sanger validation | Whole-Exome Sequencing, broader but less targeted read depth |
| Turnaround Time | 3-4 Weeks (expedited upon request) | 5-7 Weeks |
Physician Insight & Safety Protocols
"MMDS1 is a devastating but recognisable syndrome; genetic confirmation is vital for accurate prognosis and family planning. A negative result does not exclude other mitochondrial disorders, so clinical correlation remains paramount. This test is only one piece of the diagnostic puzzle โ always interpret findings within the full clinical and biochemical context."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue any prescribed medication, especially anti-epileptics or metabolic supplements, without consulting your treating physician prior to sample collection. Sudden cessation of therapy can precipitate a metabolic crisis or worsening of seizure control.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Minors without legal guardian consent; patients with severe coagulopathy (INR >1.5) or active systemic infection; blood draw not feasible due to poor venous access.
- Seek Immediate ER Care: If the patient exhibits acute metabolic crisis (vomiting, profound lethargy), status epilepticus, or rapidly deteriorating consciousness โ these constitute a medical emergency independent of the genetic test.
Patient FAQ & Clinical Guidance
1. What is the NFU1 genetic test and why is it ordered?
A: This test sequences the NFU1 gene to detect pathogenic variants causing a severe infantile-onset mitochondrial syndrome characterized by neurological regression, seizures, and hypotonia. It is typically indicated when a child presents with Leigh-like bilateral basal ganglia lesions, persistent metabolic acidosis, or elevated lactate. Identifying the specific mutation guides antemortem diagnosis, enables prenatal options, and helps avoid unnecessary interventions.
2. How is the sample collected and what preparation is needed?
A: A small volume of whole blood (3-5 ml) is drawn via venipuncture or collected as a dried blood spot on an FTA card; no fasting is required. Our VIP Mobile Phlebotomy team arrives at your home with a temperature-monitored kit. You must provide a detailed clinical history and a pedigree chart from a prior genetic counselling session. Extracted DNA stored in-house can also be submitted if quality checks pass.
3. What do the results mean and will they change my child's treatment?
A: A positive result confirms the diagnosis of NFU1-related mitochondrial disorder, enabling targeted supportive care, family carrier testing, and prenatal diagnosis. A negative result rules out the most common pathogenic variants in this gene but does not exclude other mitochondrial diseases. Treatment remains largely supportive (coenzyme Q10, riboflavin, seizure control), adjusted per metabolic work-up. Your neurologist will integrate the genetic data with MRI and biochemical markers to tailor management.
UAE Regulatory & Data Privacy Adherence
DHA Facility License Number: 1143
All clinical data handling at DNA Labs UAE strictly adheres 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. Patient consent and clinical safety protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | NFU1 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 1 (MMDS1) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3-4 Weeks (expedited upon request) |
| Sample Type / Matrix | Whole Blood (3-5 ml) or Dried Blood Spot (FTA Card) |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | E88.89 (Other specified metabolic disorders) |
| LOINC Code | 82319-8 (Mitochondrial disorder gene panel sequencing DNA) |
| DHA Facility License & Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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