Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3โ4 Weeks
PABPN1 Gene Oculopharyngeal Muscular Dystrophy (OPMD) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test with Sanger confirmation accurately detects GCG trinucleotide repeat expansions in the PABPN1 gene, the definitive cause of oculopharyngeal muscular dystrophyโa late-onset neuromuscular condition. Our UAE laboratory provides full diagnostic, predictive, and carrier status analysis, delivering results in 3โ4 weeks to guide clinical management and family planning.
| Feature | Our Test (NGS + Sanger) | Closest Alternative (PCR-only) |
|---|---|---|
| Method | Next-Generation Sequencing (NGS) with Sanger confirmation, Illumina platform | Standard PCR fragment sizing |
| Precision & CNV Detection | Detects exact GCG repeat size, mosaicism, and large deletions/duplications | Limited sizing resolution; may miss complex repeats or low-level mosaicism |
| Turnaround Time | 3โ4 Weeks | 2โ3 Weeks |
| Price (AED) | 2,800 | 2,000โ2,500 |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics practicing in the UAE, I understand the deep concern families face when hereditary neuromuscular disorders are suspected. The PABPN1 NGS test gives us a precise genetic answer, but it must be interpreted alongside your complete clinical picture and family history. Please remember that a negative result does not exclude other muscular dystrophies, and regardless of your result, never stop or adjust any prescription medication without direct consultation with your doctor.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Safety Advisory
Medication Warning
Do not discontinue prescribed medication without consulting your doctor. Genetic test results are not a substitute for clinical judgment.
Exclusion Criteria & Emergency Red Flags
- Individuals under 18 years without legal guardian consent (per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Recent blood transfusion (within 3 months) may interfere with germline DNA analysis.
- Acute febrile illness (temp >38ยฐC) โ postpone collection.
- Urgent ER visit if: sudden breathing difficulty, severe choking/aspiration, or rapid progression of muscle weakness.
Patient FAQ & Clinical Guidance
1. What is the purpose of the PABPN1 genetic test?
The PABPN1 genetic test identifies expansions in the PABPN1 gene to confirm or rule out oculopharyngeal muscular dystrophy, enabling accurate diagnosis and family risk assessment.
2. How is the sample collected and is it painful?
A simple blood draw or DNA sample via FTA card is collected by a certified phlebotomist at your home; the procedure is minimally invasive and well-tolerated.
3. What do the results mean and how long does it take?
Results are definitive for the GCG repeat expansion status, with a report delivered within 3 to 4 weeks, and include a genetic counseling follow-up to interpret findings.
UAE Regulatory & Data Privacy Adherence
Your genetic data is processed 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 clinical testing and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE holds DHA Facility License No. 1143 and applies ISO 15189 standards for genetic testing.
Clinical & Logistical Metadata
| Test Name | PABPN1 Gene Oculopharyngeal Muscular Dystrophy (OPMD) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or Buccal Swab (FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Confirmation โ Illumina Platform |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 94772-6 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
Preparation Required
["No specific fasting required", "Inform lab of recent blood transfusion (within 3 months)"]
Medically Reviewed by Dr. Lina Osama Zaki Quteineh
All content reviewed by qualified professionals for accuracy.
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians