Test Price
2,800 AEDโ Home Collection Available
CNBP Gene Myotonic Dystrophy Type 2 Genetic Test in UAE | 2,800 AED
License: 1143
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified next-generation sequencing.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily 8 AM to 11 PM.
- Clinical Guidance: Post-test telephonic consultation with a consultant medical geneticist for result interpretation.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
- Turnaround Time: 3 to 4 weeks from sample receipt.
- Sample Requirement: Whole blood or extracted DNA.
- Methodology: Next Generation Sequencing (NGS) with full CNBP gene coverage.
- Regulatory: DHA Facility License No. 1143, Dubai Healthcare City.
Test Overview & Methodology
This NGS-based genetic test analyzes the CNBP gene for pathogenic CCTG repeat expansions causing myotonic dystrophy type 2, a multisystem neuromuscular disorder characterized by proximal muscle weakness, myotonia, and variable cardiac involvement. The assay provides definitive molecular diagnosis, enabling personalized clinical management and cascade family screening. Full gene coverage ensures detection of both canonical repeat expansions and rare sequence variants within the same workflow, reducing the need for reflexive testing.
| Feature | Our Test (NGS) | Closest Alternative (Repeat-Primed PCR) |
|---|---|---|
| Methodology | Next Generation Sequencing (full gene coverage) | Repeat-Primed PCR (limited to repeat expansion) |
| Diagnostic Sensitivity | 99.9% (ISO-certified) | ~95% |
| Turnaround Time | 3โ4 Weeks | 2 Weeks |
| Price | 2,800 AED | ~2,000 AED |
| DHA Accreditation | ISO 9001:2015 & DHA Licensed | Not ISO accredited |
Physician Insight & Safety Protocols
โGenetic confirmation of myotonic dystrophy type 2 through CNBP analysis provides a definitive molecular anchor for clinical decision-making. A positive result establishes the diagnosis but does not alone predict disease severity or progression trajectory. I strongly advise that all results be interpreted by a neurologist and a clinical geneticist within the full context of neurological examination, family history, and cardiac assessment.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Medication and Clinical Precautions
Do not discontinue, alter, or adjust any prescribed medication, including cardiac or neuromuscular therapies, without direct consultation with your treating physician. Abrupt changes may precipitate adverse events, particularly in patients with concurrent cardiac conduction abnormalities.
Patient Safety and Exclusion Criteria
- Exclusion Criteria: Acute febrile illness at time of draw, inability to provide informed consent, and minors presenting without legal guardian consent as mandated by UAE child protection regulations.
- Emergency Red Flags: Sudden onset or worsening muscle weakness, palpitations, syncope, dysphagia, or respiratory difficulty โ these require immediate emergency medical evaluation.
- Consent Requirement: A pre-test genetic counseling session is mandatory to document informed consent, draw a three-generation family pedigree, and discuss implications of results for at-risk relatives.
Patient FAQ & Clinical Guidance
1. What is the CNBP gene test used for?
The CNBP gene test detects pathogenic CCTG repeat expansions in the CNBP gene to confirm or exclude a diagnosis of myotonic dystrophy type 2. This molecular analysis is indicated for individuals presenting with proximal muscle weakness, myotonia, cataracts, or a family history suggestive of the condition. A confirmed result enables targeted cardiac surveillance, endocrine monitoring, and informed family planning.
2. How is the test performed and when will I receive results?
A whole blood sample is collected through our VIP mobile phlebotomy service at your home or office, or you may visit our Dubai Healthcare City collection center. Extracted DNA undergoes next-generation sequencing with full coverage of the CNBP gene. Results are reported within 3 to 4 weeks from sample receipt. A pre-test genetic counseling session is required to obtain informed consent and document family history.
3. What do positive and negative results mean?
A positive result confirms the presence of a pathogenic CCTG repeat expansion diagnostic of myotonic dystrophy type 2, warranting clinical monitoring and cascade testing of first-degree relatives. A negative result rules out CNBP-related myotonic dystrophy but does not exclude other neuromuscular disorders. All results must be interpreted by a neurologist or clinical geneticist in conjunction with the complete clinical picture.
4. Can I undergo this test if I am taking medication?
Yes, the test can be performed regardless of concurrent medications. However, you must not discontinue or change any prescribed treatment before consulting your doctor. Certain medications may influence symptom presentation, so providing a complete medication list to your genetic counselor is essential for accurate clinical correlation.
5. Will my insurance cover the cost of the test?
Coverage varies by insurance provider and policy. DNA Labs UAE offers direct billing verification for select insurers. To confirm your eligibility and out-of-pocket costs, please send a copy of your insurance card via WhatsApp to +971 54 548 8731 prior to scheduling your sample collection.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This diagnostic service operates under DHA Facility License No. 1143 and adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient data processing, storage, and sharing. Health information handling additionally complies with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory is accredited under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). For data privacy inquiries or to exercise your rights under PDPL, contact our Data Protection Officer at DNA Labs UAE.
Clinical & Logistical Metadata
| Test Name | CNBP Gene Myotonic Dystrophy Type 2 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole blood or extracted DNA |
| Methodology Used | Next Generation Sequencing (NGS) โ full CNBP gene coverage |
| ICD-10-CM Code | G71.11 (Myotonic muscular dystrophy) |
| LOINC Code | 101413-3 (CNBP gene mutation analysis) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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