Test Price
2,800 AED✅ Home Collection Available
SPRED1 Gene Legius Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% diagnostic sensitivity achieved through ISO 9001:2015 accredited NGS processing (Cert: INT/EGQ/2509DA/3139), covering all coding exons and splice sites of SPRED1 with copy number variant detection.
- ✓ Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across all seven Emirates, staffed by DHA-licensed phlebotomists.
- ✓ Clinical Guidance: Post-test telephonic result interpretation provided by a DHA-licensed consultant medical geneticist, ensuring clear understanding of findings and recommended next steps.
- ✓ Insurance & Billing: Direct billing verification available via WhatsApp at +971 54 548 8731 with all major UAE insurers.
Test Overview & Methodology
The SPRED1 Gene Legius Syndrome Genetic Test interrogates the entire coding region and conserved splice sites of the SPRED1 gene using next-generation sequencing (NGS) to confirm a clinical diagnosis of Legius syndrome. This RASopathy disorder presents with multiple café-au-lait macules and is clinically distinct from neurofibromatosis type 1, lacking the neurofibroma tumor risk. Definitive molecular differentiation guides appropriate surveillance, family counselling, and long-term management planning.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Methodology | Full gene NGS with copy number variant detection and orthogonal confirmation of pathogenic findings | Limited Sanger sequencing of hotspot exons or targeted mutation analysis only |
| Diagnostic Yield | Greater than 95% for pathogenic variants in SPRED1 | Approximately 40–60% restricted to known mutations |
| Turnaround Time | 3 to 4 weeks with expedited processing available upon request | 4 to 8 weeks typical for external reference laboratories |
| Accreditation | ISO 9001:2015 certified and DHA Facility License 1143 | Variable; often foreign laboratories without UAE regulatory compliance |
Physician Insight & Safety Protocols
"Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403), advises: This NGS-based test delivers definitive molecular confirmation of Legius syndrome in individuals presenting with multiple café-au-lait macules without neurofibromas. Accurate differentiation from neurofibromatosis type 1 is essential for appropriate clinical surveillance, genetic counselling, and family planning. All results must be interpreted in the context of clinical findings and family history."
Pre-Test Advisory & Safety Information
Continue all prescribed medications unless explicitly instructed otherwise by your treating physician. No dietary or fasting preparation is required for the blood draw; however, please inform the phlebotomist of any current medications, supplements, or bleeding disorders.
Exclusion Criteria for Home Collection
- Severe anemia or active bleeding disorder requiring physician clearance prior to venipuncture.
- Inability to provide informed consent; minors require legal guardian consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Unstable vital signs or acute febrile illness on the scheduled collection day—resampling is recommended after clinical recovery.
Emergency Indicators – Immediate Medical Evaluation Required
- New onset severe headache, visual disturbances, or seizure activity.
- Rapid enlargement of cutaneous lesions or emergence of unexplained neurological deficits.
- Unexplained chest discomfort, palpitations, or unintentional weight loss exceeding 5% in one month.
Patient FAQ & Clinical Guidance
1. What is the SPRED1 Gene Legius Syndrome Genetic Test and why is it performed?
This test analyzes the complete SPRED1 gene using next-generation sequencing to identify disease-causing mutations responsible for Legius syndrome, a RASopathy characterized by multiple café-au-lait macules without neurofibromas. Differentiating Legius syndrome from neurofibromatosis type 1 (NF1) is critical because the two conditions require distinct surveillance strategies and carry different tumor risk profiles. The NGS approach captures all coding exons and splice junctions, detecting single nucleotide variants, small insertions and deletions, and copy number alterations. A positive result confirms the clinical suspicion and enables targeted family counselling, while a negative result may prompt evaluation for NF1 or other RASopathy genes.
2. How is the test performed and what is the turnaround time in the UAE?
A standard peripheral whole blood sample is collected by a DHA-licensed phlebotomist during a scheduled home visit or at our Dubai Healthcare City facility. The sample is transported under temperature-controlled cold chain to our ISO 9001:2015 accredited laboratory. DNA extraction, library preparation, and NGS sequencing are completed within 3 to 4 weeks of sample receipt. Bioinformatics analysis aligns sequence reads to the reference genome, flags all variant calls, and classifies them according to ACMG guidelines. Every pathogenic finding is confirmed by an orthogonal method before release. You will receive a secure digital report and may request a telephonic consultation with a consultant medical geneticist.
3. Is this test covered by insurance and what laws protect my genetic data in the UAE?
We verify direct billing eligibility with all major UAE insurers through our billing team via WhatsApp at +971 54 548 8731. Your genetic information is classified as sensitive personal data and is fully protected under 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 genomic data is stored on encrypted servers within UAE jurisdiction, and access is restricted to authorized clinical personnel only. You have the right to request data deletion in accordance with PDPL provisions. Testing of minors requires written informed consent from a legal guardian and is accompanied by mandated pre-test genetic counselling.
UAE Regulatory & Data Privacy Adherence
All genetic testing services at DNA Labs UAE operate under the regulatory oversight of the Dubai Health Authority (DHA Facility License 1143) and comply with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Patient genomic data is processed, stored, and transmitted in accordance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring encryption, access control, and audit trail integrity. Clinical consent and safety protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Our ISO 9001:2015 quality management system (Cert: INT/EGQ/2509DA/3139) guarantees rigorous validation, traceability, and continuous process improvement across the entire testing lifecycle.
Clinical & Logistical Metadata
| Test Name | SPRED1 Gene Legius Syndrome Genetic Test (Next-Generation Sequencing) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks (expedited available) |
| Sample Type / Matrix | Whole Blood (Peripheral) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection |
| Methodology Used | Next-Generation Sequencing (NGS) with copy number variant detection |
| ICD-10-CM Code | Q85.09 |
| LOINC Code | 82939-0 |
| DHA Facility License & Laboratory Address | DHA License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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