Test Price
2,800 AED✅ Home Collection Available
DNAJB2 Gene Spinal Muscular Atrophy Type 5 (SMA5) – Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary – DNAJB2 SMA5 NGS
- 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 correlation discussion with a genetic counsellor to aid result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731. All major UAE insurers covered under DHA/MOHAP guidelines.
Test Overview & Methodology
The DNAJB2 Gene Spinal Muscular Atrophy Type 5 (SMA5) – Genetic Test precisely detects pathogenic variants in the DNAJB2 gene using Next-Generation Sequencing, enabling definitive diagnosis of this rare autosomal recessive neuromuscular disorder. This advanced genetic analysis confirms DNAJB2 mutations associated with spinal muscular atrophy type 5, allowing accurate diagnosis and effective family counselling.
| Feature | Our DNAJB2 NGS Test | Closest Alternative (Broad Neuromuscular Panel) |
|---|---|---|
| Precision | 99.9% analytical sensitivity for DNAJB2, covers all coding exons ±10 bp flanking regions | ~85% sensitivity for DNAJB2 due to limited coverage; may miss deep intronic variants |
| Methodology | NGS (Next-Generation Sequencing) with Sanger confirmation of clinically significant variants | NGS panel of 200+ genes; DNAJB2 not always prioritized in bioinformatics pipeline |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks (longer if re-analysis required) |
| Cost | 2800 AED | 4500 – 6000 AED |
Physician Insight & Safety Protocols
“A positive DNAJB2 result must always be integrated with a detailed neurological examination and family history; this test confirms the genetic aetiology but cannot stand alone – clinical correlation avoids misinterpretation and guides appropriate management. Discuss the implications with a genetic counsellor before and after testing to make informed decisions.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Pre-Test Genetic Counselling Required
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Acute febrile illness or active systemic infection at time of sample collection.
- Known alternative genetic diagnosis (e.g., SMN1 deletion SMA) – geneticist referral required first.
- Inability to provide informed consent or appropriate assent for minors per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Sample contamination (visible haemolysis or bacterial growth) will require recollection.
Emergency Red Flags
- Sudden or rapidly progressive muscle weakness, especially involving respiratory muscles – seek immediate emergency care.
- New-onset dysphagia or aspiration risk – urgent neurology review irrespective of test status.
- Severe scoliosis with respiratory compromise – requires hospital admission.
Patient FAQ & Clinical Guidance
1. What does the DNAJB2 gene test for SMA type 5 detect?
The DNAJB2 gene test identifies pathogenic mutations causing spinal muscular atrophy type 5, a rare autosomal recessive neuromuscular disorder leading to progressive proximal muscle weakness and atrophy, typically beginning in adolescence or adulthood. Early genetic diagnosis enables informed family planning and symptom management.
2. How is the sample collected and what are the pre-test requirements?
A standard peripheral whole blood sample is collected via our VIP Mobile Phlebotomy service at your home or at our facility. Pre-test genetic counselling is recommended to discuss family history and inheritance patterns. No special dietary or medication adjustments are needed.
3. What is the turnaround time, cost, and insurance coverage?
Results are delivered within 3 to 4 weeks at a fixed price of 2800 AED. Direct insurance verification is available via WhatsApp +971 54 548 8731 before sample collection, ensuring seamless reimbursement under all major UAE insurance plans.
4. Will this test detect all types of spinal muscular atrophy?
This test is specific to DNAJB2-related SMA type 5. It does not detect SMN1-related SMA types 1-4. Your genetic counsellor will recommend the appropriate test panel based on clinical presentation and family history.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This test 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. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory operates under DHA Facility License 1143 with ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). All home collections are conducted by licensed phlebotomists with full cold-chain logistics compliance.
Clinical & Logistical Metadata
| Test Name | DNAJB2 Gene Spinal Muscular Atrophy Type 5 (SMA5) – Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood, EDTA (Lavender Top) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | G12.1 |
| LOINC Code | 69047-9 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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