Test Price
4,800 AEDโ Home Collection Available
Spinal Muscular Atrophy (SMA) Gene Panel in UAE | DNA Labs UAE
Executive Summary & Core Metrics
Comprehensive Genetic Analysis for Spinal Muscular Atrophy
The SMA Gene Panel delivers definitive diagnostic insight through Next-Generation Sequencing (NGS) of the SMN1 and SMN2 genes, achieving a diagnostic sensitivity exceeding 99.9% for common and rare pathogenic variants. This test is essential for confirmatory diagnosis, carrier screening, and prenatal evaluation.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Clinical Guidance: Telephonic Post-Test Genetic Counseling by a DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The Spinal Muscular Atrophy (SMA) Gene Panel employs robust Next-Generation Sequencing (NGS) technology to interrogate the full coding regions and exon-intron boundaries of the SMN1 and SMN2 genes. All pathogenic variants, including deletions, duplications, and point mutations, are detected with high precision. Reflex confirmatory testing via Multiplex Ligation-dependent Probe Amplification (MLPA) is performed to verify copy number variations, ensuring result accuracy for clinical decision-making.
| Parameter | Our Test (ISO 9001:2015) | Closest Alternative |
|---|---|---|
| Methodology | NGS panel (full SMN1 & SMN2 sequencing + MLPA confirmation) | MLPA only (SMN1 deletion/duplication, limited coverage) |
| Diagnostic Yield | >99% for common mutations and rare variants | ~95% for SMN1 homozygous deletion; misses point mutations |
| Turnaround Time | 4โ6 weeks (comprehensive analysis) | 2โ3 weeks (limited reflex testing) |
| Regulatory Compliance | DHA/MOHAP standards, UAE PDPL | Variable; may lack UAE-specific accreditation |
Physician Insight & Safety Protocols
โAccurate interpretation of the SMA gene panel requires correlation with clinical presentation and family pedigree analysis. A positive carrier result carries significant reproductive implications, and all findings should be discussed confidentially with a qualified genetic counselor or medical geneticist. This test is a powerful tool for informed family planning and early intervention, not a substitute for ongoing clinical surveillance.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Protocols for Safe Sample Collection
Safety & Exclusion Criteria
- Exclusion Criteria: Active bleeding disorders (hemophilia, severe thrombocytopenia), acute infection at sample collection site, or known allergy to local anesthetic for amniocentesis or chorionic villus sampling.
- Emergency Red Flags Post-Collection: For amniotic fluid or CVS, seek immediate medical attention if you experience severe abdominal pain, fever >38ยฐC, heavy vaginal bleeding, or fluid leakage.
- Do not discontinue prescribed medication without consulting your doctor. Genetic testing does not replace ongoing clinical care.
Logistics for Invasive Specimens
Hospital Extraction Only โ Sample collection is conducted strictly within an accredited hospital facility; mobile home phlebotomy is disabled for safety. This applies to all prenatal specimens including amniotic fluid and chorionic villi. Peripheral blood for carrier screening may be collected via VIP Mobile Phlebotomy when clinically appropriate.
Patient FAQ & Clinical Guidance
1. Who should consider the SMA Gene Panel?
The SMA Gene Panel is recommended for individuals with a family history of spinal muscular atrophy, infants presenting with hypotonia or progressive muscle weakness, couples planning a pregnancy who wish to assess carrier status, and for prenatal diagnosis when ultrasound findings raise suspicion of motor neuron disease. Early detection through this panel enables timely intervention and informed reproductive decision-making.
2. How is the sample collected for prenatal testing?
Prenatal SMA testing requires amniotic fluid obtained via amniocentesis or chorionic villi sampled through chorionic villus sampling (CVS). Both procedures are performed under continuous ultrasound guidance by a specialist obstetrician to ensure maximal safety for both mother and fetus. These collections occur exclusively within a hospital setting.
3. What does a negative result mean?
A negative result indicates no clinically significant pathogenic variants were identified in the SMN1 or SMN2 genes within the sensitivity limits of the assay. This substantially reduces the likelihood of SMA but does not exclude the possibility of rare intronic variants or other neuromuscular conditions that may mimic SMA. Clinical correlation and continued follow-up remain essential.
4. What is the turnaround time for results?
Results are typically available within 4 to 6 weeks from sample receipt. This timeline accommodates the comprehensive sequencing approach, confirmatory MLPA analysis, and rigorous variant interpretation by our board-certified molecular genetics team. Please note that complex cases requiring additional testing may extend this timeframe.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
DNA Labs UAE operates in full compliance with the DHA regulatory framework for diagnostic genetic testing. All patient data is processed and stored in strict adherence 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 protocols are guided by Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring that every test is performed with the highest standards of ethical practice.
All genetic data is encrypted, access-controlled, and never shared with third parties without explicit patient consent. We maintain ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) for quality management systems, reinforcing our commitment to diagnostic precision and data security.
Clinical & Logistical Metadata
| Test Name | Spinal Muscular Atrophy (SMA) Gene Panel |
| Price (AED) | 4,800 AED |
| Turnaround Time | 4โ6 weeks |
| Sample Type / Matrix | Amniotic Fluid, Chorionic Villi, Peripheral Blood |
| Methodology Used | Next-Generation Sequencing (NGS) + MLPA confirmation |
| ICD-10-CM Code | G12.9 |
| LOINC Code | 92661-8 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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