Test Price
2,800 AED✅ Home Collection Available
AP4S1 Gene (SPG52) Genetic Test in UAE | 2800 AED | DHA Licensed Lab 1143
Executive Summary & Core Metrics
- Diagnostic Sensitivity > 99.9% for pathogenic variants in the AP4S1 coding region via ISO 9001:2015 accredited NGS processing.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Post-result tele-genetic counseling provided by a Consultant Medical Geneticist to interpret clinical implications.
- Direct insurance verification and billing support via WhatsApp at +971 54 5488731.
Test Overview & Methodology
This molecular diagnostic assay utilizes next-generation sequencing to analyze the entire coding region and splice-site junctions of the AP4S1 gene. It provides definitive confirmation of hereditary spastic paraplegia type 52 (SPG52), a progressive neurological disorder characterized by lower-limb spasticity and weakness, often presenting in early childhood.
Targeted NGS offers superior depth and accuracy for single-gene analysis compared to broader genomic screens.
| Feature | Our Test (AP4S1 NGS) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity for pathogenic variants | ~95% for single-gene disorders; may miss deep intronic or copy-number variants |
| Method | Targeted NGS with orthogonal Sanger confirmation | WES (broader genomic screen, lower per-gene coverage) |
| Turnaround Time | 3-4 Weeks | 4-6 Weeks |
Physician Insight & Safety Protocols
“Targeted NGS for AP4S1 provides definitive molecular confirmation of SPG52, but the result must always be correlated with a thorough neurological examination and detailed family history. I advise families that a positive or negative report shapes clinical management and genetic counseling, yet it does not replace ongoing supportive care. It is completely normal to feel anxious before and after testing—our clinical team is here to guide you through every step and interpret what the findings mean for your loved one’s future.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue or alter any prescribed antispasticity medications or supportive therapies based solely on genetic test results. All treatment decisions must be made in consultation with the managing neurologist or genetic specialist.
Safety Exclusion Criteria
- Established alternative diagnosis for spastic paraplegia without clinical indication for AP4S1 testing.
- Inability or refusal to attend a pre-test genetic counseling session to construct a three-generation pedigree.
- Absence of informed consent from the patient or, for minors, from the legal guardian as per UAE law.
Emergency Red Flags – Seek immediate medical attention if:
- Sudden loss of ambulation or acute worsening of spasticity.
- Acute respiratory distress or swallowing difficulty.
- Severe joint contractures causing immobility.
- Any acute neurological deterioration (new confusion, seizures, vision loss).
Patient FAQ & Clinical Guidance
1. What is the AP4S1 gene and its role in SPG52?
The AP4S1 gene provides instructions for a subunit of the adaptor protein complex 4 (AP-4), which is essential for proper neuronal development and function. Pathogenic mutations in AP4S1 disrupt this complex, leading to hereditary spastic paraplegia type 52 (SPG52). This condition primarily manifests in early childhood with progressive lower-limb spasticity, weakness, and gait difficulties. Confirming the genetic change helps tailor physical therapy, surveillance for associated issues like intellectual disability, and informs family recurrence risks.
2. What does a positive result mean for my child’s future?
A positive result confirms the molecular cause of the symptoms, enabling precise prognosis discussions, targeted interventions, and accurate recurrence risk counseling for the family. Early multidisciplinary management—including physiotherapy, orthotics, and sometimes antispasticity medications—can improve mobility and quality of life. Regular follow-up with a neurologist and geneticist is essential to monitor disease progression and manage symptoms effectively.
3. How should I prepare for this genetic test?
Preparation requires a clinical history review, a dedicated genetic counseling session to construct a three-generation pedigree, and a routine blood draw (no fasting needed) collected via our DHA-licensed mobile phlebotomy service. Please bring copies of any previous neurological evaluations, MRI reports, and relevant family medical records. Our counselor will explain the test’s scope, possible outcomes, and the implications under UAE genetic testing regulations before sample collection.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: All genetic and personal data are processed and stored in strict 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. Your genomic information is encrypted, access-controlled, and used solely for diagnostic purposes with your explicit informed consent.
Clinical Oversight: This test is performed under the clinical supervision of a Consultant Medical Genetics (DHA 9294403) and is supported by a comprehensive quality management system accredited under ISO 9001:2015.
Clinical & Logistical Metadata
| Test Name | AP4S1 Gene (SPG52) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) with Orthogonal Sanger Confirmation |
| ICD-10-CM Code | G11.4, Z13.71 |
| LOINC Code | 93437-5 |
| DHA Facility License & Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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