Test Price
2,800 AED✅ Home Collection Available
L1CAM Gene MASA Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Core Metrics & Service Highlights
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by Consultant Medical Genetics.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The L1CAM Gene MASA Syndrome Genetic Test is a comprehensive next-generation sequencing (NGS) assay that screens the entire coding region of the L1CAM gene for pathogenic variants linked to MASA syndrome (Mental retardation, Aphasia, Shuffling gait, Adducted thumbs). This definitive genetic test enables accurate diagnosis, family risk assessment, and informed clinical decision-making within the UAE healthcare framework.
| Feature | Our Test – L1CAM NGS | Closest Alternative – Targeted Single-Exon Sanger |
|---|---|---|
| Precision | >99.9% sensitivity for entire coding region, including deep intronic boundaries | ~85% sensitivity; limited to pre-selected exons only |
| Method | NGS with full bioinformatics pipeline & copy number variant detection | Capillary sequencing of individual amplicons |
| Turnaround Time | 3 to 4 weeks | 1 to 2 weeks (but incomplete genetic coverage) |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I recognize the profound impact of genetic diagnoses on families. This NGS-based test for L1CAM-related MASA syndrome delivers comprehensive molecular clarity essential for accurate diagnosis and recurrence risk counseling. I strongly recommend that all results be discussed with a clinical geneticist. Never adjust or discontinue prescribed therapies based on test results without consulting your treating physician.” — Lina Osama Zaki Quteineh, DHA Registration ID: 9294403.
Advisory Notice
Do not stop or alter any prescribed medication or therapy without explicit guidance from your treating healthcare provider. Genetic test results are one component of a comprehensive clinical evaluation and should never be used as the sole basis for treatment decisions.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Testing asymptomatic minors requires legal guardian consent per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Not intended for stand-alone prenatal diagnosis; must be ordered by a clinical geneticist.
- ER Red Flag: Sudden neurological deterioration (seizures, loss of consciousness, stroke-like episodes) – seek emergency care immediately, unrelated to the testing process.
- ER Red Flag: Severe adverse reaction to blood draw (fainting, allergic reaction) – call 998.
Patient FAQ & Clinical Guidance
1. What is the L1CAM MASA Syndrome Genetic Test?
It is a next-generation sequencing panel that reads the entire L1CAM gene to detect disease-causing variants linked to MASA syndrome. The test covers all coding exons and flanking intronic regions with greater than 99.9% sensitivity.
2. Who should consider this genetic test?
Individuals with clinical signs of MASA syndrome (mental retardation, aphasia, shuffling gait, adducted thumbs) or a family history of L1CAM-related disorders, as well as at-risk relatives seeking carrier or presymptomatic testing. A genetic counseling session prior to testing is strongly recommended.
3. How long does it take to receive results and how will I get them?
Results are ready in 3 to 4 weeks and delivered via secure electronic report with telephonic clinical guidance from our genetics team. The report includes variant classification per ACMG guidelines and clinical interpretation.
4. Is home sample collection available for this test?
Yes, VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection are available daily from 8 AM to 11 PM across Dubai and the UAE. A certified phlebotomist will collect the peripheral blood sample at your preferred location.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed at DNA Labs UAE, a DHA-licensed facility (License No. 1143) operating in full compliance with UAE federal law. Patient data is 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 genetic information is encrypted, stored securely, and never shared with third parties without explicit patient consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | L1CAM Gene MASA Syndrome Genetic Test (Next-Generation Sequencing) |
| Price (AED) | 2800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next-Generation Sequencing (NGS) with full bioinformatics pipeline and CNV detection |
| ICD-10-CM Code | Q04.8 (Other specified congenital malformations of brain – L1CAM-related disorder) |
| LOINC Code | 81334-3 (L1CAM gene targeted mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab: DNA Labs UAE. |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians