Test Price
2,800 AED✅ Home Collection Available
MED13L Gene Analysis (Mental Retardation, Facial Dysmorphism, Cardiac Defects) – NGS Genetic Test in UAE
Executive Summary & Core Metrics
MED13L Gene Analysis is a targeted next-generation sequencing (NGS) test designed to detect pathogenic variants in the MED13L gene, associated with neurodevelopmental disorders including intellectual disability, distinctive facial features, and congenital heart defects. This molecular diagnostic assay provides definitive genetic confirmation, enabling personalized medical management, cardiac surveillance, and informed family planning.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing – clinically validated NGS with Sanger confirmation.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Post‑test telephonic interpretation of results by a DHA‑licensed Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
Comprehensive NGS analysis of the MED13L gene covering all coding exons and flanking intronic regions with full gene coverage. Variants are validated by Sanger sequencing to ensure single‑nucleotide resolution and 99.9% clinical sensitivity. The test detects missense, nonsense, frameshift, splice‑site, and small insertion/deletion variants.
| Feature | Our Test (NGS) | Closest Alternative (Chromosomal Microarray) |
|---|---|---|
| Diagnostic Precision | Single‑nucleotide resolution; 99.9% clinical sensitivity for MED13L | Detects large deletions/duplications; may miss intragenic mutations |
| Methodology | NGS with full gene coverage + Sanger validation | Array‑based; copy‑number variants only |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Variant Spectrum | SNVs, indels, splice‑site variants | CNVs only (deletions/duplications >50 kb) |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I understand the profound uncertainty families face when seeking answers for a child with developmental delay and unusual physical features. This targeted NGS analysis provides definitive molecular evidence for MED13L-associated disorders, empowering families with a clear diagnosis and enabling proactive cardiac surveillance. I always recommend correlating molecular findings with a comprehensive clinical evaluation by a multidisciplinary team.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication and Treatment Advisory
Maintain all prescribed therapies unless explicitly modified by your treating physician. Abrupt discontinuation of cardiac or neurologic medications may lead to serious adverse events, particularly in patients with underlying congenital heart anomalies. Always consult your doctor before making any changes to your medication regimen.
Exclusion Criteria and Emergency Red Flags
- Exclusion Criteria: Insufficient venous access, severe coagulopathy, or active infection at the venipuncture site. For pediatric patients, written informed consent from a legal guardian is mandatory per Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Emergency Red Flags: Immediate evaluation is required if the patient experiences chest pain, syncope, palpitations, or acute dyspnea. These symptoms may indicate undiagnosed congenital heart defects associated with MED13L variants. Seek emergency care without delay.
Patient FAQ & Clinical Guidance
1. What does the MED13L gene analysis detect?
The test identifies pathogenic mutations in the MED13L gene that cause intellectual disability, distinctive facial features, and congenital heart defects. It provides a definitive molecular diagnosis, guiding cardiac surveillance, developmental support, and family planning decisions.
2. What sample type is required and how is it collected?
A standard peripheral whole blood sample is collected via venipuncture by a trained phlebotomist. Our VIP Mobile Phlebotomy service is available daily from 8 AM to 11 PM, with temperature‑controlled cold‑chain transport to the ISO‑accredited laboratory.
3. When will I receive the results?
Results are delivered within 3 to 4 weeks from sample receipt. This turnaround time ensures thorough NGS analysis, Sanger confirmation of identified variants, and expert clinical interpretation by a consultant medical geneticist.
UAE Regulatory & Data Privacy Adherence
This test and all associated data handling comply with UAE federal data protection and health information frameworks. Patient data is processed 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. Clinical safety and patient consent are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and operates under DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | MED13L Gene Analysis (Mental Retardation, Facial Dysmorphism, Cardiac Defects) – NGS Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood (Peripheral Venipuncture) |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes), F70 (Mild intellectual disability) |
| LOINC Code | 99566-9 (MED13L gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA 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
HIPAA
All reports reviewed by DHA-Certified physicians