Test Price
2,800 AED✅ Home Collection Available
PLEKHG5 Gene Distal Spinal Muscular Atrophy Type 4 (DSMA4) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Your Precision Diagnostic Partner
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy with Hospital-Grade Home Collection (8 AM – 11 PM) and ISO Certified Cold-Chain Transport.
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance by a Genetic Counsellor.
- Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
The PLEKHG5 gene NGS test identifies pathogenic mutations causing distal spinal muscular atrophy type 4 (DSMA4), an autosomal recessive neuromuscular disorder characterised by progressive weakness in hands and feet, typically with adult onset. This next-generation sequencing test delivers comprehensive analysis of all coding exons, offering definitive diagnosis for at-risk families across the UAE. A mandatory pre-test genetic counselling session ensures a detailed family pedigree is documented, and complete clinical history including age at onset and prior neurological investigations is reviewed. No fasting is required for sample collection.
| Feature | Our Test (NGS Full-Gene) | Closest Alternative (Sanger Single-Exon) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) | Sanger Sequencing of one exon |
| Coverage | All coding exons and splice sites | Single exon, may miss deep intronic variants |
| Sensitivity | 99.9% (validated against reference standards) | ~85% (depends on variant location) |
| Turnaround Time | 3 – 4 weeks | 2 – 3 weeks |
| Patient Price | 2800 AED | Not directly comparable |
Physician Insight & Safety Protocols
"A confirmed PLEKHG5 mutation provides critical information for prognosis and reproductive planning, yet all genetic results must be correlated with clinical examination and electromyography. This test is a diagnostic aid, not a standalone clinical verdict." – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
Medication Advisory
Do not discontinue or alter any prescribed medication without prior consultation with your treating physician. Genetic test results may inform future therapeutic decisions but should never prompt abrupt changes to ongoing treatment.
Patient Safety Exclusion Criteria
- Recent blood transfusion (within 2 weeks) – may compromise DNA extraction purity.
- Active acute infection with high fever – reschedule after recovery.
Emergency Red Flags – Seek Immediate Care
- New-onset respiratory distress or difficulty swallowing.
- Rapidly progressive limb weakness over days, not months.
Patient FAQ & Clinical Guidance
1. What is the purpose of the PLEKHG5 gene NGS test?
This test detects mutations in the PLEKHG5 gene to confirm distal spinal muscular atrophy type 4, enabling precise prognosis and family screening. It verifies whether you carry two mutated copies, establishing the diagnosis of this autosomal recessive condition, and helps unaffected relatives understand their carrier status.
2. How is the sample collected?
A simple blood draw into an EDTA tube, a single drop on an FTA card, or an extracted DNA sample is collected at your home by our VIP mobile phlebotomy team, with no fasting required. Our professionals use hospital-grade aseptic technique and ensure cold-chain transport to the laboratory immediately after collection.
3. How long does it take to receive results?
Results are typically available within 3 to 4 weeks due to the comprehensive NGS analysis and expert interpretation, ensuring the highest accuracy. The extensive sequencing, bioinformatics verification, and dual-clinician sign-off guarantee a reliable report you can trust for life-changing decisions.
4. What does a positive result mean for my family?
A positive result confirms the diagnosis of DSMA4 and indicates that both copies of the PLEKHG5 gene carry a pathogenic variant. First-degree relatives have a 25% chance of being affected and a 50% chance of being carriers. Genetic counselling is strongly recommended for all family members to discuss reproductive options and cascade testing.
5. Is genetic counselling included with this test?
Yes, complimentary telephonic post-test clinical guidance by a genetic counsellor is provided with every test. Additionally, a mandatory pre-test counselling session is conducted to document a detailed family pedigree and ensure informed consent before sample collection.
UAE Regulatory & Data Privacy Adherence
Accredited by:
ISO 9001:2015 Certification – Cert: INT/EGQ/2509DA/3139
Data privacy and security are governed by 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 testing safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is encrypted, access-controlled, and processed exclusively within UAE jurisdiction.
Clinical & Logistical Metadata
| Test Name | PLEKHG5 Gene Distal Spinal Muscular Atrophy Type 4 (DSMA4) Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3 – 4 weeks (21 – 28 calendar days) |
| Sample Type / Matrix | Whole Blood (EDTA tube), Extracted DNA, or FTA Card Spot |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Coding Exons & Splice Sites |
| ICD-10-CM Code | G12.21 |
| LOINC Code | 21665-1 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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