Spinal Muscular Atrophy (SMA) Mutation Detection Test – Molecular Diagnosis & Carrier Screening in UAE

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Molecular Processing.
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 Guidance in result interpretation by a Consultant Medical Geneticist.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Corporate Oversight: This test is performed at DNA Labs UAE, DHA License No. 1143, Dubai Healthcare City, under the clinical leadership of Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403).

Test Overview & Methodology

The Spinal Muscular Atrophy (SMA) Mutation Detection Test utilizes Multiplex Ligation-dependent Probe Amplification (MLPA) to precisely identify homozygous deletions and copy number variations in the SMN1 gene on chromosome 5q13. This assay provides definitive molecular diagnosis for individuals presenting with clinical features of SMA and serves as a reliable carrier screening tool for at-risk couples in the UAE. MLPA offers a robust alternative to next-generation sequencing for SMA-specific detection, achieving approximately 95% sensitivity for homozygous SMN1 exon 7 deletions—the most common cause of type I SMA. Results are correlated with clinical presentation and family history to guide early therapeutic intervention and reproductive counseling.

Our Test vs. Closest Alternative

Feature	SMA MLPA Test	Whole Exome Sequencing (WES)
Detection Method	Multiplex Ligation-dependent Probe Amplification (MLPA)	Next-Generation Sequencing of all coding exons
SMA-Specific Sensitivity	~95% for homozygous SMN1 deletion; quantitative copy number detection	~70–80% for SMA alone; may miss copy number variants
Turnaround Time	6 business days (submission Monday by 11 AM → report Saturday)	4–6 weeks
Price in AED	2,000	Above 5,000

Physician Insight & Safety Protocols

Clinical Insight from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403): “MLPA-based SMA testing offers a cost-effective, high-sensitivity solution for detecting SMN1 deletions. A positive result confirms the diagnosis or carrier status, but the absence of a deletion does not exclude the possibility of rare point mutations. Comprehensive genetic counseling should accompany all test results to address phenotypic variability and recurrence risk.”

Advisory & Safety Considerations

Important Clinical Advisory

All genetic testing must be accompanied by pre- and post-test genetic counseling to ensure informed decision-making.
Recent blood transfusion (within 3 weeks) or active hematological malignancy may compromise DNA yield; defer collection until resolved.
Pregnant individuals require additional counseling regarding implications for the fetus and reproductive options.

Exclusion Criteria & Emergency Red Flags

When to Seek Immediate Medical Attention

Respiratory distress or acute worsening of muscle weakness with bulbar involvement may indicate disease progression and requires urgent neurological assessment.
Sudden loss of previously attained motor milestones (e.g., ambulation, head control) warrants prompt evaluation.
These emergency signs are related to the underlying disease, not to the blood collection procedure.

Patient FAQ & Clinical Guidance

1. What exactly does the SMA mutation detection test look for?

This test uses MLPA technology to detect deletions and copy number variations in the SMN1 gene. It achieves approximately 95% sensitivity for the homozygous exon 7 deletion that causes type I SMA, and it also identifies carriers with a single SMN1 copy. Results are interpreted alongside clinical presentation and family history for comprehensive diagnosis.

2. How should I prepare for the blood sample collection?

No fasting is required. You must complete the Genomics Clinical Information Requisition Form (Form 20) prior to collection. The sample is drawn into a lavender-top EDTA tube and must be transported under refrigerated conditions—never frozen. Our mobile phlebotomy team can collect at your home between 8 AM and 11 PM daily.

3. Can this test be performed for a child, and is home collection available for pediatric patients?

Yes, pediatric testing is supported with appropriate parental or guardian consent. Our ISO-certified mobile phlebotomy team provides hospital-grade home collection for patients of all ages, including infants and children. A parent or legal guardian must be present during collection for minors.

UAE Regulatory & Data Privacy Adherence

DNA Labs UAE operates in full compliance 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 encrypted, access-controlled, and processed under strict confidentiality agreements. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. This test is performed at our DHA-licensed facility (License No. 1143) in Dubai Healthcare City.

Clinical & Logistical Metadata

Test Name	Spinal Muscular Atrophy (SMA) Mutation Detection Test (MLPA)
Price (AED)	2,000
Turnaround Time	6 business days (sample submission Monday by 11 AM → report Saturday)
Sample Type / Matrix	Peripheral Whole Blood (Lavender-top EDTA Tube) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM
Methodology Used	Multiplex Ligation-dependent Probe Amplification (MLPA)
ICD-10-CM Code	G12.9, G12.0, G12.1
LOINC Code	36911-9
DHA Facility License & Laboratory Address	DHA License No. 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE \| DNA Labs UAE