Test Price
2,800 AED✅ Home Collection Available
POMT1 Gene Sequencing for Limb-Girdle Muscular Dystrophy Type 2K (Autosomal Recessive) in UAE | 2800 AED
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).
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed Consultant Medical Geneticist.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the entire coding region of the POMT1 gene to detect autosomal recessive mutations responsible for limb-girdle muscular dystrophy type 2K (LGMD2K). It is the definitive molecular diagnostic tool for confirming clinical suspicion and guiding management.
| Feature | Our Test (NGS POMT1) | Closest Alternative (Single-gene Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% analytical sensitivity and specificity | ~95% sensitivity for point mutations only |
| Methodology | Next-Generation Sequencing (full gene coverage including deep intronic regions) | Sanger sequencing of selected exons |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Regulatory Compliance | Full DHA, ISO 9001:2015, UAE PDPL | Variable |
Physician Insight & Safety Protocols
“Genetic testing for LGMD2K provides definitive molecular confirmation, but results must be integrated with your full clinical picture. Pre- and post-test counseling is strongly advised to ensure comprehensive care.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
Clinical Advisory
⚠️ Clinical Notice: Do not discontinue any prescribed medication without consulting your treating physician. Genetic test results do not replace ongoing medical management.
Safety & Exclusion Criteria
- Exclusion: Patients who have received a blood transfusion within the last 8 weeks.
- Exclusion: Inability to provide valid informed consent (or parental/guardian consent for minors).
- Emergency Red Flag: Sudden onset of severe respiratory difficulty, chest pain, or loss of ambulation — seek immediate medical attention at the nearest emergency department. This test is not for acute triage.
- Pregnant individuals or those planning pregnancy: consult a clinical geneticist before testing.
All procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability and Federal Decree-Law No. 45 of 2021 on Personal Data Protection, in accordance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
Patient FAQ & Clinical Guidance
1. What does the POMT1 genetic test detect?
Our POMT1 gene sequencing test uses NGS to diagnose limb-girdle muscular dystrophy type 2K accurately. It identifies pathogenic mutations in the POMT1 gene causing the autosomal recessive form of LGMD.
2. How is the sample collected for this test?
Home collection via blood draw ensures safe, convenient, and ISO-certified sample collection. A trained phlebotomist visits your location at the scheduled time. The sample is transported under temperature-controlled cold chain.
3. What is the turnaround time for results?
Results are reported within 3 to 4 weeks from sample receipt due to comprehensive NGS analysis. The process includes sequencing, bioinformatics interpretation, and clinical confirmation by our DHA-licensed geneticist.
UAE Regulatory & Data Privacy Adherence
This laboratory is fully compliant 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 follows Federal Decree-Law No. 4 of 2016 on Medical Liability. Our facility is DHA licensed (License No. 1143) and operates under strict quality management standards (ISO 9001:2015 certified).
Clinical & Logistical Metadata
| Test Name | POMT1 Gene Sequencing for Limb-Girdle Muscular Dystrophy Type 2K (Autosomal Recessive) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (venous puncture) or FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 81309-2 |
| DHA Facility License & Address | License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Lab: DNA Labs UAE. |
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