Test Price
2,800 AED✅ Home Collection Available
SPRED1 Gene Neurofibromatosis Type 1-Like Syndrome (Legius Syndrome) Genetic Test
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified NGS processing with full SPRED1 gene coverage (100% exons ±20 bp intronic boundaries). Sanger confirmation of all pathogenic variants ensures zero false negatives.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Alternatively, secure courier retrieval for blood drawn at any DHA-licensed clinic.
Clinical Guidance: Post-test telephonic genetic counselling with a Consultant Medical Genetics to interpret results and guide clinical management for dermatology, neurology, or oncology referral.
Insurance & Support: Direct billing verification via WhatsApp at +971 54 548 8731. Competitive pricing at 2,800 AED inclusive of all laboratory processing and clinical interpretation.
Test Overview & Methodology
The SPRED1 NGS test analyzes the entire coding sequence of the SPRED1 gene to confirm or rule out Legius syndrome (OMIM #611431), a condition that clinically mimics neurofibromatosis type 1. Early and precise molecular diagnosis enables appropriate surveillance, genetic counselling, and management planning. Our validated next-generation sequencing pipeline on the Illumina NovaSeq X Plus platform delivers industry-leading sensitivity and specificity.
| Feature | Our Premium NGS Service | Typical Alternative Labs |
|---|---|---|
| Precision & Coverage | 100% of SPRED1 exons ±20 bp intronic boundaries; Sanger confirmation of pathogenic variants | Limited to select exons or hotspot regions; may miss deep intronic/splice-site mutations |
| Methodology | Next‑Generation Sequencing (Illumina NovaSeq X Plus) with validated bioinformatics pipeline | Sanger sequencing or PCR‑based assays with lower throughput |
| Turnaround Time | 3–4 weeks, inclusive of clinical interpretation | 6–8 weeks or more |
| Sample Options | Whole blood, extracted DNA, or one drop blood on FTA card | Often require large volume venous blood only |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specializing in hereditary tumour syndromes, I understand the diagnostic uncertainty that patients face when presenting with multiple café‑au‑lait spots and no definite neurofibromas. The SPRED1 gene test provides definitive molecular clarity for Legius syndrome, but results must always be integrated with a complete clinical assessment and pedigree analysis. Never halt any prescribed medications or alter follow‑up schedules without consulting your specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Medication Advisory
Do not discontinue any prescribed dermatological or neurological medication without explicit approval from your treating physician. Abrupt cessation of neuroactive or dermatologic drugs can lead to serious complications including seizure recurrence or disease flare. This test is a diagnostic aid, not a substitute for ongoing clinical care.
Exclusion Criteria & Safety Red Flags
- Exclusion: Active febrile illness, recent blood transfusion (< 2 weeks), inability to provide informed consent, or age < 18 without legal guardian consent.
- Emergency Red Flags: If after blood collection you develop sudden severe headache, vision loss, focal weakness, or speech difficulty, seek immediate emergency care at the nearest hospital.
- Genetic Counselling: A mandatory pre‑test genetic counselling session to construct a three‑generation pedigree chart will be arranged by our team prior to sample collection.
Patient FAQ & Clinical Guidance
1. What exactly does the SPRED1 gene test diagnose, and who should consider it?
It detects pathogenic variants in the SPRED1 gene causing Legius syndrome, a condition that closely mimics neurofibromatosis type 1. Individuals with multiple café‑au‑lait spots, axillary or inguinal freckling, and no neurofibromas or Lisch nodules often benefit from this precise differential diagnosis. The test is also relevant for family members when a pathogenic variant is identified.
2. How is the sample collected, and what preparation is required?
A licensed phlebotomist will visit your home or office between 8 AM and 11 PM for a simple blood draw or FTA card collection. No fasting is required, but you must provide your complete clinical history and pedigree chart from the pre‑test genetic counselling session. For FTA cards, a single drop of blood from a fingertip prick is sufficient.
3. When will I receive the results and how are they interpreted?
Final curated reports are delivered within 3–4 weeks, accompanied by a telephonic consultation with our clinical geneticist. The report clearly classifies variants as benign, likely benign, uncertain significance, likely pathogenic, or pathogenic, strictly in accordance with the latest ACMG/AMP guidelines. A detailed interpretation with clinical recommendations is provided.
4. Are there any risks or side effects from the blood draw?
Blood collection is a routine, low‑risk procedure. Minor bruising or slight discomfort at the puncture site may occur. Serious complications (infection, prolonged bleeding, nerve irritation) are extremely rare. Our phlebotomist follows strict infection control and sterile technique protocols.
5. How does this test differ from a standard neurofibromatosis type 1 genetic test?
Standard NF1 testing focuses on the NF1 gene. The SPRED1 test specifically analyses the SPRED1 gene, which accounts for approximately 1–2% of patients clinically diagnosed with NF1. A negative NF1 genetic test combined with the clinical picture should prompt SPRED1 analysis to differentiate Legius syndrome, which has a milder tumour predisposition.
UAE Regulatory & Data Privacy Adherence
ISO 9001:2015 Certified Laboratory – Cert: INT/EGQ/2509DA/3139
Data Protection: All patient information is processed 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. Data is encrypted end‑to‑end and stored within UAE borders.
Medical Liability & Consent: Clinical testing safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Informed consent for genetic testing is obtained after pre‑test counselling.
Support: WhatsApp +971 54 548 8731 | 8 AM – 11 PM daily
Clinical & Logistical Metadata
| Test Name | SPRED1 Gene Full Sequencing (Legius Syndrome) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or FTA card blood spot |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | Q85.0 (Neurofibromatosis, nonmalignant) – differential for Legius syndrome |
| LOINC Code | 95003-0 (SPRED1 gene mutation analysis in Blood or Tissue) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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