Test Price
2,800 AEDโ Home Collection Available
SMN1 Gene Sequencing for Spinal Muscular Atrophy Type 1 (NGS) โ UAE
Executive Summary & Core Metrics
- Diagnostic Precision: Over 99.9% sensitivity with validated ISO-accredited NGS and copy number analysis.
- VIP Mobile Phlebotomy: Hospital-grade home collection with temperature-controlled cold chain, available daily from 8 AM to 11 PM.
- Clinical Support: Post-result telephone consultation with a genetics specialist for interpretation.
- Insurance Facilitation: Direct coverage verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The SMN1 gene sequencing test utilising Next Generation Sequencing (NGS) detects homozygous deletions, copy number variations, and rare point mutations in the survival motor neuron 1 gene. This assay confirms the diagnosis of spinal muscular atrophy type 1 (Werdnig-Hoffmann disease), guides prognosis estimation, enables carrier screening, and supports informed family planning decisions.
| Feature | Our SMN1 NGS Test | Closest Alternative (MLPA/qPCR) |
|---|---|---|
| Precision | >99.9% diagnostic sensitivity; detects copy number and rare point variants | >95%; primarily detects exon 7 deletion, may miss subtle mutations |
| Methodology | Next Generation Sequencing (NGS) with copy number analysis | MLPA or real-time PCR, limited variant scope |
| Turnaround | 3โ4 Weeks | 2โ3 Weeks |
Physician Insight & Safety Protocols
โThis SMN1 genetic assay provides near-definitive molecular confirmation for spinal muscular atrophy type 1. However, results must always be interpreted in conjunction with the full clinical picture and neurological examination. I advise families not to alter any ongoing supportive or disease-modifying therapies without direct consultation with their treating specialist.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠ Medication Safety Advisory
Do Not Discontinue Prescribed Therapies
Abrupt cessation of nusinersen, risdiplam, or any supportive therapy can lead to rapid disease progression. Always consult your physician before making changes.
⚠ Exclusion Criteria & Emergency Red Flags
- Defer sample collection during acute febrile illness or within two weeks of a blood transfusion (may affect DNA quality).
- This test is contraindicated in individuals with known severe bleeding disorders unless cleared by a haematologist.
- Go to the Emergency Room immediately if the patient develops rapid worsening of muscle weakness, severe breathing difficulty, choking, or inability to swallow.
Patient FAQ & Clinical Guidance
1. What is the SMN1 gene test and why is it needed for spinal muscular atrophy type 1?
This test identifies homozygous deletions or point mutations in the SMN1 gene responsible for SMA type 1. It confirms the clinical diagnosis, aids prognosis, guides carrier screening, and supports family planning.
2. How accurate is this SMN1 NGS test for detecting spinal muscular atrophy type 1?
Our NGS-based assay achieves over 99.9% diagnostic sensitivity for SMA type 1-causing variants, including copy number changes and rare point mutations, making it the gold standard for molecular diagnosis.
3. What is the process for home sample collection for this test in Dubai?
We offer VIP mobile phlebotomy with a certified cold-chain courier from 8 AM to 11 PM daily. A trained nurse will visit your home to collect a peripheral blood sample, which is then securely transported to our ISO-accredited laboratory. Results are delivered in 3โ4 weeks with a follow-up consultation.
UAE Regulatory & Data Privacy Adherence
We strictly comply 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 genetic data is handled with the highest confidentiality, encrypted during transit and storage, and accessible only to authorised clinical personnel. Patient consent is obtained under Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | SMN1 Gene Sequencing for Spinal Muscular Atrophy Type 1 (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral) โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM to 11 PM) |
| Methodology Used | Next Generation Sequencing (NGS) with Copy Number Variant Analysis |
| ICD-10-CM Code | G12.0, Z15.89, Z82.79 |
| LOINC Code | 48086-0 |
| DHA Facility License & Lab Address | License: 1143 • Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE • Corporate Lab: DNA Labs UAE |
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