Test Price
2,800 AED✅ Home Collection Available
POMT2 Gene Genetic Test in UAE | 2800 AED | DHA-Licensed
Executive Summary & Core Metrics
This comprehensive POMT2 Genetic Test delivers 99.9% analytical sensitivity for detecting pathogenic variants associated with congenital muscular dystrophy-dystroglycanopathy type B2 (with mental retardation). Certified under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) and adhering to UAE 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. The service includes DHA-certified VIP mobile phlebotomy with temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM, rapid transport to our CAP-accredited laboratory, and expert post-test telephonic guidance by a Consultant Medical Genetics. Direct insurance billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The POMT2 gene sequencing test detects mutations causing muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B2, a severe autosomal recessive disorder. Our next-generation sequencing (NGS) assay delivers full gene coverage with a turnaround of 3–4 weeks, outperforming standard single-gene Sanger sequencing in speed and comprehensiveness.
| Feature | Our POMT2 NGS Test | Conventional Sanger Sequencing |
|---|---|---|
| Methodology | NGS (Next Generation Sequencing) – High-throughput, full exon coverage | Sanger sequencing – single exon analysis, limited scope |
| Diagnostic Sensitivity | 99.9% (analytical sensitivity for SNVs & indels) | ~95% (may miss deep intronic variants) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Sample Type | Whole blood (peripheral) or extracted DNA | Whole blood or DNA |
| ISO Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | May vary |
Physician Insight & Safety Protocols
“POMT2 gene variants are implicated in a spectrum of congenital muscular dystrophies with brain involvement. A positive test result necessitates meticulous clinical correlation, including a thorough neurological and developmental assessment. Genetic counseling is mandatory to discuss implications for the patient and family. This test is a crucial step, but diagnosis must be integrated with clinical phenotype.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Advisory
Caution: Do not discontinue or alter any prescribed medication without consulting your treating physician. This genetic test is intended for diagnostic clarification and does not replace ongoing clinical management or emergency care.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Active coagulopathy or inability to provide informed consent for phlebotomy.
- Exclusion: Lack of legal guardian consent for minors (as per UAE genetic testing law).
- Red Flags: If you or your child experiences sudden muscle weakness, respiratory distress, seizures, or feeding difficulties, seek immediate emergency care. Do not delay.
- Home collection is performed by DHA-certified phlebotomists; contraindications will be assessed prior to sampling.
Patient FAQ & Clinical Guidance
1. What is the diagnostic accuracy of this POMT2 NGS test?
The test delivers 99.9% analytical sensitivity and specificity for detecting single nucleotide variants and small indels across all coding exons of the POMT2 gene, validated by rigorous in-house quality metrics. Genetic counseling is required to interpret the clinical significance of any identified variant.
2. How is the sample collected and what are the logistics?
A DHA-certified phlebotomist visits your home between 8 AM and 11 PM (7 days a week) for a standard peripheral blood draw. The sample is immediately stored in an ISO-certified cold-chain transport system and directly delivered to our CAP-accredited laboratory in Dubai Healthcare City.
3. What should I do if the test result is positive?
A positive result indicates a likely pathogenic variant; however, clinical correlation by a neurologist or clinical geneticist is mandatory to confirm the diagnosis and discuss management, family screening, and prenatal options. Pre-test genetic counseling is a legal requirement and will guide you through the process.
UAE Regulatory & Data Privacy Adherence
This test is conducted in full compliance with UAE federal regulations. Data processing 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. All clinical procedures, including patient consent, are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory operates under DHA Facility License Number 1143 and maintains ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). Pre-test genetic counseling is mandatory per UAE law, ensuring informed consent and appropriate pedigree analysis.
Clinical & Logistical Metadata
| Test Name | POMT2 Genetic Test (NGS Full Gene Sequencing) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (peripheral) – VIP mobile phlebotomy with cold-chain home collection (8 AM – 11 PM daily) |
| Methodology Used | Next-Generation Sequencing (NGS) – full coding exons and flanking intronic regions |
| ICD-10-CM Code | G71.0, Z15.89, F79 |
| LOINC Code | 85915-8 |
| DHA Facility License & Laboratory Address | DHA License 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians