Test Price
1,500 AEDโ Home Collection Available
Myotonic Dystrophy Type 2 (DM2) Genetic Test in UAE | 1500 AED
Executive Summary & Core Metrics
Your Clinically Optimized DM2 Diagnostic Pathway
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified genetic processing.
- Premium Logistics: VIP Mobile Phlebotomy & temperature-controlled cold-chain home collection, available daily 8 AM โ 11 PM.
- Clinical Guidance: Telephonic post-test clinical guidance for result interpretation from a Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The Myotonic Dystrophy Type 2 (DM2) test detects CCTG repeat expansions in the CNBP gene using PCR-based fragment analysis, providing a definitive molecular diagnosis for this autosomal dominant multisystem disorder. This test is essential for differentiating proximal myotonic myopathy from other neurologic/myopathic conditions in the UAE.
| Feature | Our DM2 Test (Center Portal) | Closest Alternative (WES/WGS Panels) |
|---|---|---|
| Methodology | Targeted PCR + Fragment Analysis (STR) for CNBP CCTG expansion | Whole-exome or whole-genome sequencing (may miss repeat expansions) |
| Diagnostic Precision | 99.9% sensitivity for DM2-specific expansion; direct sizing of repeats | Variable; bioinformatic detection of short tandem repeats less validated |
| Turnaround Time | Report by Friday (sample received Monday by 11 am) | Typically 3โ6 weeks |
| Cost | 1500 AED | Estimated 3000โ8000 AED |
| Pre-test Requirement | Genomics Clinical Information Requisition Form (Form 20) mandatory | Varies; often requires detailed phenotype forms |
Table compares our DM2 dedicated assay with broader genetic sequencing panels commonly available in UAE.
Physician Insight & Safety Protocols
โAs a Consultant Medical Geneticist practicing in Dubai, I emphasise that a positive DM2 result must be interpreted within the full clinical contextโproximal weakness, myotonia, cataracts, and cardiac conduction defects. This test provides critical genetic clarity but does not replace a thorough neurologic examination and pedigree analysis.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Card โ Medication Safety
โ Do Not Discontinue Prescribed Medications
Do not stop any prescribed medications (e.g., mexiletine, antiarrhythmics) without consulting your treating physician.
Exclusion Criteria & Emergency Red Flags
Patient Safety Notice
- Exclusion Criteria: Inability to provide 4 mL whole blood; active haematologic malignancy requiring special handling.
- Minors: Genetic testing in individuals under 18 years requires dual parental consent in accordance with UAE Federal Law No. 2 of 2019 on ICT in Health Fields.
- Seek Immediate Medical Attention (ER Red Flags): Sudden onset of severe muscle weakness affecting breathing, choking, cardiac syncope, or loss of consciousness.
Our home collection team is trained to identify these high-risk signs and will escalate to emergency services if needed.
Patient FAQ & Clinical Guidance
1. What is Myotonic Dystrophy Type 2, and how is it inherited?
This test detects CCTG repeat expansions in the CNBP gene with 99.9% analytical sensitivity. Myotonic Dystrophy Type 2 follows an autosomal dominant inheritance pattern; a single altered gene copy from one parent is sufficient to cause the condition. Clinical manifestations include proximal muscle weakness, myotonia, early cataracts, and cardiac rhythm disturbances.
2. Why should I choose this DM2 test over a whole-exome sequencing panel?
Our targeted PCR fragment analysis identifies DM2 mutations faster and at one-third the cost of whole-exome sequencing. Whole-exome approaches may fail to accurately size the CCTG repeat expansion, leading to inconclusive results; this dedicated assay provides unequivocal repeat-length determination within a 5-day turnaround.
3. How do I prepare for the blood draw, and when will I receive my report?
No fasting required; simply provide a 4 mL EDTA blood tube along with the mandatory genomics requisition form (Form 20). The sample must be collected on Monday by 11 am to be shipped refrigerated (never frozen) for Friday reporting. Our phlebotomist will ensure all documentation is completed at the bedside.
UAE Regulatory & Data Privacy Adherence
This diagnostic service complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governing the processing of genetic and health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ regulating telemedicine and digital health records.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ ensuring patient safety and clinical accountability.
Laboratory certified ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | Myotonic Dystrophy Type 2 (DM2) Genetic Test โ CNBP CCTG Repeat Expansion |
| Price (AED) | 1,500 AED |
| Turnaround Time | 5 business days (sample by Monday 11 am โ report by Friday) |
| Sample Type / Matrix | Peripheral whole blood (4 mL EDTA tube) โ VIP Mobile Phlebotomy & temperature-controlled cold-chain home collection available daily 8 AM โ 11 PM |
| Methodology Used | Targeted PCR + Fragment Analysis (STR) for CNBP CCTG expansion |
| ICD-10-CM Code | G71.11 (Myotonic muscular dystrophy) |
| LOINC Code | 84512-0 (Myotonic dystrophy type 2 CNBP gene mutation analysis in Blood or Tissue by PCR) |
| 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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