Test Price
2,800 AEDโ Home Collection Available
MYO5B Gene Diarrhea Type 2 with Microvillus Atrophy Genetic Test in UAE
Executive Summary & Core Metrics
Clinical Excellence: 99.9% Diagnostic Sensitivity โ ISO 15189 & ISO 9001:2015 Accredited NGS Laboratory.
Logistics: Complimentary VIP Phlebotomy & Temperature-Controlled Cold-Chain Home Collection by DHA-Licensed Professionals (8 AM โ 11 PM).
Post-Test Support: Telephonic Clinical Guidance by Consultant Medical Geneticist, Lina Osama Zaki Quteineh (DHA 9294403).
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) assay analyzes the complete coding region and splice sites of the MYO5B gene to detect pathogenic variants associated with microvillus inclusion disease and intractable diarrhea of infancy. Early molecular confirmation is critical for guiding parenteral nutrition and providing accurate genetic counseling for affected families.
Pre-Test Requirements
- A detailed clinical history, including stool output and growth parameters, must accompany the test requisition.
- Informed consent for genetic testing must be signed prior to sample collection.
- No fasting is required for blood collection; samples may be drawn at any time.
- If anticoagulant therapy is ongoing, the phlebotomist must be notified to minimize procedure risks.
| Feature | DNA Labs UAE NGS Test | Sanger Sequencing (Alternative) |
|---|---|---|
| Methodology | NGS (Next-Generation Sequencing) โ full gene coverage | Sanger sequencing โ limited to known hotspots |
| Turnaround Time | 3โ4 Weeks | 6โ8 Weeks |
| Sensitivity | >99.9% for single nucleotide variants & small indels | ~95% for targeted regions |
| Sample Type | Blood, extracted DNA, or one-drop FTA card | Blood or DNA only |
Physician Insight & Safety Protocols
โAs a Consultant Medical Geneticist, I emphasize that this MYO5B NGS test must be interpreted within the complete clinical context, including stool output, electrolyte status, and endoscopic biopsy findings. A positive result confirms a diagnosis of microvillus atrophy, directing long-term nutritional management. A negative result does not exclude all genetic etiologies, and genes beyond MYO5B may warrant investigation. Cascade screening for at-risk relatives is strongly recommended following a positive proband result.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License 9294403
Advisory on Clinical Management During Testing
Continue all prescribed medications and nutritional support unless explicitly instructed otherwise by the managing pediatric gastroenterologist. This genetic test is an adjunct to, not a replacement for, urgent clinical monitoring of hydration and growth parameters.
Safety Exclusion Criteria and Emergency Red Flags
- Acute medical instability: Infants presenting with severe dehydration, lethargy, or electrolyte disturbances require immediate hospital-based stabilization prior to elective outpatient phlebotomy.
- Coagulopathy: A history of bleeding disorders or anticoagulant therapy should be communicated to the phlebotomist to minimize bruising or hematoma risk.
- Emergency escalation: The sudden onset of abdominal distension, bilious vomiting, or hematochezia necessitates urgent emergency department evaluation without delay for genetic test completion.
Patient FAQ & Clinical Guidance
1. What specific condition does the MYO5B genetic test address?
This test targets microvillus inclusion disease (MVID), a life-threatening congenital enteropathy characterized by severe, watery diarrhea beginning in the first days of life. Pathogenic variants in the MYO5B gene disrupt intracellular trafficking in intestinal epithelial cells, leading to nutrient malabsorption and failure to thrive. NGS-based genetic testing provides a definitive diagnosis, enabling early nutritional intervention and accurate family counseling.
2. Which individuals are appropriate candidates for this NGS-based test?
Any infant presenting with intractable diarrhea of infancy after exclusion of infectious, allergic, and metabolic etiologies should be evaluated. Additionally, families with a history of early-onset unexplained diarrhea or consanguineous unions with suspected autosomal recessive inheritance are suitable candidates. Carrier screening for at-risk adult relatives is also clinically indicated.
3. How is the MYO5B NGS test performed at DNA Labs UAE?
The test begins with extraction of genomic DNA from a peripheral blood sample. Sequencing is performed on an Illumina NGS platform with deep coverage of all coding exons and conserved splice sites. Bioinformatic analysis identifies single nucleotide variants, small insertions, and deletions. All clinically significant findings are confirmed by orthogonal methods before reporting. Reports are issued within 21โ28 calendar days.
4. What is the clinical sensitivity and regulatory approval status of this assay?
The assay achieves >99.9% analytical sensitivity for variants within the MYO5B coding region. The laboratory holds full accreditation under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and operates under DHA Facility License 1143. All reports are reviewed and signed by board-certified clinical geneticists and comply with UAE data protection and healthcare regulations.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring that all genetic sequence data is encrypted, access-controlled, and processed solely for medical diagnostic purposes. It further adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields and the medical liability standards outlined in Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE holds DHA Facility License 1143, and all issued reports are digitally signed, timestamped, and fully auditable.
Clinical & Logistical Metadata
| Test Name | MYO5B Gene (Microvillus Inclusion Disease) โ NGS Full Gene Sequencing |
| Price (AED) | 2,800 |
| Turnaround Time | 21โ28 Calendar Days (3โ4 Weeks) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Extracted Genomic DNA (โฅ1 ยตg), or FTA Card Spot |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina Platform, Full Coding Exons & Conserved Splice Sites |
| ICD-10-CM Code | Q43.8 (Other specified congenital malformations of intestine) |
| LOINC Code | 82308-7 (MYO5B gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians