Test Price
2,800 AED✅ Home Collection Available
POMGNT1 Gene Analysis for Muscular Dystrophy-Dystroglycanopathy, Congenital with Intellectual Disability, Type B3 (Genetic Test)
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS & Sanger Validation.
- 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 result interpretation by a DHA-licensed Consultant Medical Genetics.
- Insurance: Direct billing verification & pre-authorization assistance via WhatsApp +971 54 548 8731.
- Price: AED 2,800 | Turnaround Time: 3–4 Weeks
Test Overview & Methodology
This next-generation sequencing analysis reads the entire coding region of the POMGNT1 gene to identify pathogenic or likely pathogenic variants underlying muscular dystrophy-dystroglycanopathy type B3 (congenital with intellectual disability). The test provides a definitive molecular diagnosis, enabling precise prognosis, carrier testing, and prenatal counselling. Full gene coverage includes intronic boundaries (±10 bp) to capture deep splicing variants.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative (Generic Panel) |
|---|---|---|
| Technology | NGS (Illumina) + Sanger confirmation | Targeted panel, often without deep intronic coverage |
| Gene Coverage | Full POMGNT1 gene (±10 bp intronic boundaries) | Exonic hotspots only |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Diagnostic Rate | >99.9% analytical sensitivity | ~95–97% |
| UAE Regulatory Adherence | ✅ DHA/MOHAP, ISO 9001:2015, PDPL | Often shipped overseas; data sovereignty unclear |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Genetics, I emphasize that a positive POMGNT1 result must be correlated with clinical findings—muscle biopsy, brain MRI, and developmental assessments. A negative result does not exclude other dystroglycanopathies; further genetic testing may be required. Never alter or stop prescribed therapy without consulting your managing physician.”
— Lina Osama Zaki Quteineh, DHA Registration ID: 9294403
⚠️ Safety Advisory
- Medication Caution: Do not discontinue prescribed medication without consulting your doctor. Inform the phlebotomist of any anticoagulant use.
- ER Red Flags: Seek immediate emergency care if you experience acute respiratory distress, severe muscle weakness with difficulty swallowing, or sudden loss of consciousness.
- Home Collection Conditions: Fasting is not required. Ensure child or dependent patient is accompanied by a guardian.
🚫 Exclusion Criteria
- Individuals with documented uncontrolled bleeding disorders.
- Testing on minors (<18 years) requires explicit legal guardian consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Patients with known anaphylaxis to EDTA or similar collection additives.
Patient FAQ & Clinical Guidance
1. What does the POMGNT1 genetic test detect?
The test identifies pathogenic mutations in the POMGNT1 gene responsible for congenital muscular dystrophy-dystroglycanopathy type B3 with intellectual disability, guiding diagnosis and family planning.
2. How is the sample collected?
A DHA-certified phlebotomist performs VIP mobile home collection with a temperature-controlled cold-chain transport kit, ensuring sample stability from your doorstep. Collection is available daily from 8 AM to 11 PM.
3. What is the turnaround time for POMGNT1 results?
Results are typically available within 3 to 4 weeks, inclusive of bioinformatics analysis, Sanger confirmation, and clinical report sign-out.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance 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. All genetic data is encrypted, stored on local servers, and never shared without explicit consent. Clinical procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DHA Facility License: 1143.
Clinical & Logistical Metadata
| Test Name | POMGNT1 Gene Analysis for Muscular Dystrophy-Dystroglycanopathy, Congenital with Intellectual Disability, Type B3 |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or buccal swab |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 21690-2 |
| DHA Facility License & Address | 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians