Test Price
2,800 AED✅ Home Collection Available
SPRED1 Gene Neurofibromatosis Type 1-Like Syndrome (Legius Syndrome) Genetic Test in UAE
Executive Summary & Core Metrics
Clinical Executive Summary
- High Diagnostic Precision – Full coding region analysis via NGS with 1000× mean depth on an Illumina platform, delivering comprehensive variant detection for Legius syndrome confirmation.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – DHA-licensed phlebotomists collect samples at your residence daily from 8 AM to 11 PM, with cold-chain transport to our ISO-accredited laboratory.
- Expert-Linked Result Interpretation – A Consultant Medical Genetics reviews and curates every report, integrating family history and clinical presentation for actionable guidance.
- Direct Insurance Billing Support – WhatsApp +971 54 548 8731 for pre-authorization and coverage verification.
Test Overview & Methodology
This next-generation sequencing test analyzes the entire coding region of the SPRED1 gene to diagnose Legius syndrome (NF1-like syndrome), a hereditary cancer predisposition disorder characterized by multiple café-au-lait macules, intertriginous freckling, and an elevated risk of certain neoplasms. Early molecular confirmation enables tailored surveillance and informed family planning.
| Feature | SPRED1 NGS Test (This Test) | Alternative – Sanger Sequencing |
|---|---|---|
| Precision | Full gene coverage, including deep intronic and large deletion detection | Exon-by-exon analysis, may miss large deletions and deep intronic variants |
| Methodology | NGS (Illumina platform) with 1000× mean depth | Sanger sequencing, limited multiplex capability |
| Turnaround Time | 3–4 weeks | Often 4–6 weeks for full gene analysis |
| Result Interpretation | Clinically curated report by Consultant Medical Genetics | Basic laboratory report without specialist integration |
Physician Insight & Safety Protocols
“Confirming a SPRED1 pathogenic variant provides a definitive diagnosis of Legius syndrome, yet the clinical trajectory remains variable. Results must always be interpreted alongside a three-generation pedigree, dermatological assessment, and periodic imaging surveillance. Pre- and post-test genetic counseling is essential to address cancer risks, screening schedules, and reproductive decision-making. This test is one component of a comprehensive clinical evaluation, not a standalone predictor.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Guidance
This genetic test provides diagnostic and susceptibility information. It does not replace ongoing clinical monitoring or established treatment protocols. All management decisions, including imaging intervals and surgical referrals, should be made by your treating physician in coordination with a genetics specialist. Patients with a confirmed SPRED1 mutation should adhere to published surveillance guidelines for Legius syndrome.
Exclusion Criteria & Red Flags
- Exclusion from home collection: Inability to provide informed consent; uncontrolled bleeding disorder; acute febrile illness requiring medical stabilization.
- Red flags – seek emergency care: Sudden severe headache, vision loss, focal neurological deficit, or acute pain/swelling of a known neurofibroma.
- Pediatric sampling (under 18 years) requires written parental/guardian consent in full compliance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What clinical signs indicate I should consider this SPRED1 genetic test?
Multiple café-au-lait macules, intertriginous freckling, and a family history of neurofibromatosis without detectable NF1 mutations are strong indicators for Legius syndrome testing. A genetics specialist will evaluate your full clinical picture before recommending the analysis.
2. How does the home blood collection process work in the UAE?
A DHA-licensed phlebotomist visits your residence between 8 AM and 11 PM, collects a peripheral blood sample using an EDTA tube or FTA card, and transports it under temperature-controlled cold-chain conditions (2–8 °C) to our ISO-accredited laboratory within four hours.
3. What legal protections safeguard my genetic data in the UAE?
Your genomic data is encrypted and stored on UAE-based servers 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. Access is restricted to authorized medical professionals directly involved in your care.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This test is conducted in full compliance with UAE 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 handling procedures meet the data privacy and security standards mandated by the Dubai Health Authority (DHA). Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | SPRED1 Gene Neurofibromatosis Type 1-Like Syndrome (Legius Syndrome) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube or FTA card) |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina platform, 1000× mean depth |
| ICD-10-CM Code | Q85.02 (Legius syndrome), Z15.09 (Cancer susceptibility), Z14.8 (Genetic carrier) |
| LOINC Code | 77639-7 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians