Test Price
2,800 AED✅ Home Collection Available
MED13L Gene Sequencing (NGS) – Transposition of the Great Arteries (D-Looped) in UAE | 2,800 AED
Executive Summary & Core Metrics
Executive Summary
This diagnostic test detects pathogenic variants in the MED13L gene linked to dextro‑looped transposition of the great arteries (D‑TGA). Conducted in an ISO 15189 and ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139), the NGS analysis delivers 99.9% sensitivity for single‑nucleotide variants and copy number changes. Premium logistics include VIP home phlebotomy (8 AM–11 PM) with ISO‑validated cold‑chain transport, and post‑result telephonic interpretation by a consultant clinical geneticist.
- 99.9% Diagnostic Sensitivity – Full coding exon coverage via NGS.
- Premium Logistics – VIP home collection with cold‑chain integrity.
- Clinical Guidance – Telephonic result interpretation by a consultant medical geneticist.
- Insurance & Billing – Direct verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next‑generation sequencing (NGS) test comprehensively analyzes the MED13L gene to detect pathogenic/likely pathogenic variants linked to dextro‑looped transposition of the great arteries (D‑TGA)—a severe congenital heart defect requiring early surgical correction. Early molecular confirmation supports precise family risk assessment and tailored peri‑natal planning. The assay covers all coding exons and intron‑exon boundaries (±10 bp) with an average read depth of 100x, ensuring robust detection of single‑nucleotide variants, small indels, and copy number variants.
| Parameter | Our Test (Premium) | Closest Alternative |
|---|---|---|
| Methodology | NGS with full gene coverage (all coding exons ±10 bp) | Selected exon Sanger sequencing |
| Diagnostic Sensitivity | 99.9% for single‑nucleotide variants/copy number changes | ~85% (misses deep intronic variants) |
| Turnaround Time | 3–4 Weeks | 5–6 Weeks |
| Pre‑Test Requirement | Mandatory genetic counseling & family pedigree | Often omitted |
| Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Variable |
Physician Insight & Safety Protocols
“This MED13L NGS test is a critical tool for confirming the molecular etiology of D‑TGA. A positive result must always be correlated with detailed fetal and postnatal echocardiography; it does not replace anatomic imaging. I strongly advise multidisciplinary discussion with a pediatric cardiologist and clinical geneticist before any surgical or pregnancy‑related decision.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory
⚠️ Medication Warning: Do not discontinue any prescribed medication without consulting your doctor. This test is for diagnostic purposes only and does not replace medical treatment.
Exclusion Criteria
- Patients who have not completed a formal genetic counseling session with a qualified genetics professional.
- Samples without a signed informed consent and a three‑generation pedigree chart.
- Prenatal specimens (chorionic villus/amniotic fluid) without a confirmed invasive diagnostic report from a fetal medicine unit.
Emergency Red Flags
- Sudden deepening cyanosis, severe difficulty breathing, or loss of consciousness — call 998 immediately.
- Signs of heart failure (poor feeding, lethargy, cold extremities) in an infant warrant urgent cardiology evaluation.
Patient FAQ & Clinical Guidance
1. What does the MED13L gene test detect?
This NGS test detects pathogenic variants in the MED13L gene known to cause dextro‑looped transposition of the great arteries (D‑TGA) and other congenital heart malformations. It covers all coding exons and can identify single‑nucleotide changes, small deletions/insertions, and copy number variants.
2. Who should consider this test?
Individuals with a family history of transposition of the great arteries, parents of an affected child, or patients with suggestive congenital heart defects should consider MED13L genetic testing after genetic counseling. It is also valuable for asymptomatic relatives planning pregnancy.
3. How is the sample collected and what is the turnaround time?
A small blood sample, previously extracted DNA, or a single drop of blood on an FTA card is collected via our VIP home phlebotomy service (available 8 AM–11 PM, 6 days a week). Results are issued within 3 to 4 weeks. All samples are transported in ISO‑validated cold‑chain containers to guarantee DNA integrity.
UAE Regulatory & Data Privacy Adherence
This test is performed in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- Federal Decree-Law No. 4 of 2016 on Medical Liability (governing clinical safety and patient consent)
All genetic data is encrypted, access‑controlled, and processed under strict confidentiality protocols. DHA Facility License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | MED13L Gene Sequencing (Next‑Generation Sequencing) for Transposition of the Great Arteries (D‑Looped) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full coding exons ±10 bp |
| ICD-10-CM Code | Q20.3 (Discordant ventriculoarterial connection) |
| LOINC Code | 93218-8 (MED13L gene targeted mutation analysis in Blood by NGS) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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