Test Price
2,800 AED✅ Home Collection Available
AP4M1 Gene SPG50 Hereditary Spastic Paraplegia NGS Test in UAE
Executive Summary & Core Metrics
This targeted Next‑Generation Sequencing (NGS) test delivers definitive molecular diagnosis for hereditary spastic paraplegia type 50 (SPG50) by analysing the AP4M1 gene with greater than 99.9% diagnostic sensitivity and specificity. Processing is conducted at our ISO 9001:2015 accredited laboratory (Cert: INT/EGQ/2509DA/3139) within Dubai Healthcare City, ensuring results that meet the highest international standards for clinical genetics.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Laboratory (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: Complimentary Telephonic Post‑Test Clinical Interpretation with a DHA‑Licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test combines cutting‑edge Illumina chemistry with Dubai Healthcare City (DHCC)‑licensed, ISO‑certified processing, delivering genetic certainty within three to four weeks. Targeted NGS sequencing of the AP4M1 gene, followed by Sanger confirmation of all clinically relevant variants, provides superior resolution compared with whole exome approaches.
| Feature | Our AP4M1 SPG50 NGS Test | Whole Exome Sequencing (WES) |
|---|---|---|
| Precision | >99.9% sensitivity & specificity for AP4M1 variants | ~95% coverage; may miss deep intronic mutations |
| Method | Targeted NGS (Illumina) + Sanger confirmation | Untargeted capture + NGS; incidental findings risk |
| Turnaround | 3 – 4 weeks | 6 – 8 weeks |
| Cost (UAE) | 2,800 AED | 6,000 – 8,000 AED |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): “A diagnosis of hereditary spastic paraplegia can be life‑changing, but uncertainty is worse than knowledge. This targeted NGS test for AP4M1 provides the clearest possible molecular answer for SPG50, enabling you to make informed decisions about disease management, family planning, and future care pathways. I strongly recommend pairing every genetic result with a full clinical evaluation and formal genetic counselling, because each variant must be interpreted within your unique personal and family history.”
Important Medication Advisory
⚠️ Do Not Discontinue Prescribed Medications
This genetic test provides diagnostic insight only and does not replace ongoing neurological management. Never stop or modify any prescribed medication without consulting your treating physician.
Safety & Exclusion Criteria
Patient Suitability & Contraindications
- Minors (under 18 years) require explicit legal guardian consent as per Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Individuals without clinical features of hereditary spastic paraplegia or a confirmed family history should seek genetic counselling before proceeding.
- Recent allogeneic blood transfusion (within 90 days) may interfere with DNA extraction; an alternative sample (e.g., buccal swab) is recommended.
- 🚨 ER Red Flags: If you experience sudden leg weakness, vision loss, or breathing difficulties, seek emergency medical attention immediately. This test is not an acute diagnostic tool and cannot rule out other acquired neurological emergencies.
Patient FAQ & Clinical Guidance
1. What is the AP4M1 gene SPG50 NGS test and why is it performed?
This NGS test accurately sequences the AP4M1 gene to identify disease‑causing mutations for hereditary spastic paraplegia SPG50. It provides a definitive molecular diagnosis for individuals with progressive lower‑limb stiffness and weakness, enabling targeted management and recurrence risk assessment. A genetic counselling session is included before sample collection to draw a pedigree and discuss potential implications.
2. How is the test performed and what is the turnaround time?
A blood sample is collected via VIP home phlebotomy service, and NGS analysis delivers results in three to four weeks. You can provide a standard whole blood sample, a dried blood spot on an FTA card, or previously extracted DNA. Our ISO‑certified phlebotomists will visit your home between 8 AM and 11 PM, ensuring cold‑chain transport and full compliance with UAE data privacy regulations.
3. What are the costs and insurance coverage for this test in UAE?
The test costs 2,800 AED, with direct billing to major insurers after WhatsApp verification at +971 54 548 8731. We facilitate pre‑approval with all leading UAE health insurance networks. The price includes telephonic clinical interpretation with a consultant medical geneticist and a comprehensive PDF report.
4. Who should consider this genetic test?
This test is recommended for individuals with clinical features of hereditary spastic paraplegia, those with a confirmed family history of SPG50, or couples planning a family where one partner carries a known AP4M1 mutation. Genetic counselling prior to testing is essential to confirm appropriateness and discuss potential outcomes.
UAE Regulatory & Data Privacy Adherence
Your Data Security & Regulatory Compliance
This diagnostic service 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. Patient consent, data handling, and clinical reporting adhere strictly to these frameworks, ensuring your genetic information remains confidential and secure.
All clinical testing and patient consent procedures comply with Federal Decree‑Law No. 4 of 2016 on Medical Liability, safeguarding your rights throughout the diagnostic journey.
Clinical & Logistical Metadata
| Test Name | AP4M1 Gene SPG50 Hereditary Spastic Paraplegia NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL EDTA), dried blood spot on FTA card, or previously extracted genomic DNA |
| Methodology Used | Targeted Next‑Generation Sequencing (Illumina) with Sanger confirmation of all clinically reportable variants |
| ICD-10-CM Code | G11.4 |
| LOINC Code | 94482-6 |
| DHA Facility License & Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians