Test Price
2,800 AED✅ Home Collection Available
MED13L Gene Sequencing for Transposition of the Great Arteries (Dextro-Looped Type 1) – Genetic Test in UAE
Executive Summary & Core Metrics
AED 2,800 – 99.9% Diagnostic Sensitivity, ISO-Certified Laboratory, 3–4 Week Turnaround. This targeted next-generation sequencing (NGS) test interrogates the entire coding region of the MED13L gene to identify pathogenic variants associated with dextro-looped transposition of the great arteries (d-TGA), a critical congenital cardiac anomaly. The service bundle includes VIP mobile phlebotomy and temperature-controlled cold-chain home collection (available daily from 8 AM to 11 PM), secure specimen transport to our Dubai Healthcare City facility, and a dedicated post-result tele-counselling session with a consultant medical geneticist. Direct insurance pre-authorisation verification is available via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This advanced molecular assay sequences the complete coding exons and flanking intronic regions of MED13L at a mean depth of >100× on an Illumina NovaSeq™ platform. Detected variants are classified according to ACMG/AMP guidelines and correlated with the patient’s echocardiographic and clinical phenotype. The test is indicated for individuals with confirmed or suspected d-TGA, at-risk first-degree relatives, and couples seeking preconception carrier screening.
| Feature | Our MED13L NGS Test | Alternative Approaches |
|---|---|---|
| Analytical Sensitivity | 99.9% for single-nucleotide variants and small indels in MED13L | Whole-exome sequencing – lower depth, higher rate of uninterpretable variants |
| Sequencing Platform | Illumina NovaSeq™ with validated bioinformatics pipeline | Sanger sequencing – limited to single exons, incomplete gene coverage |
| Turnaround Time | 21–28 calendar days from sample receipt to final report | Often 5–6 weeks due to manual curation steps |
Physician Insight & Safety Protocols
"MED13L-related d-TGA represents a distinct molecular subtype of conotruncal heart disease that benefits from a precise genotyping approach. Identifying the causative variant not only refines the surgical and long-term management plan for the proband but also enables predictable recurrence-risk counselling for the extended family. However, the genomic result must always be interpreted in the full context of fetal or postnatal echocardiography, surgical findings, and the family pedigree."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not alter or discontinue any prescribed cardiac medication, anticoagulant therapy, or other treatment regimen without explicit written guidance from your child’s managing cardiologist or primary physician. Genetic testing is a diagnostic adjunct and does not replace urgent clinical intervention for acute haemodynamic instability.
Exclusion Criteria & Emergency Red Flags
- Not intended for asymptomatic minors under 18 years of age without a defined clinical indication, in accordance with UAE regulations governing genetic testing in paediatric populations under Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Not processed without valid, written informed consent from the patient or, for minors, from a legally authorised guardian.
- Emergency Red Flag: If the patient presents with acute cyanosis, severe tachypnoea, oxygen desaturation below 85%, or signs of cardiogenic shock, seek immediate emergency paediatric cardiology care. Genetic sampling must be deferred until haemodynamic stabilisation is achieved.
Patient FAQ & Clinical Guidance
1. Why does the MED13L test require 3–4 weeks for results?
The complete workflow encompasses genomic DNA extraction from peripheral blood, enzymatic fragmentation, adapter ligation, PCR-free library preparation, high-depth sequencing on the NovaSeq platform, primary and secondary bioinformatics analysis, variant annotation against population databases, and final medical interpretation by a board-certified molecular geneticist. Each step is governed by ISO 15189 quality benchmarks, and the entire process typically consumes 21–28 calendar days to ensure clinical-grade accuracy.
2. Does the patient need to fast or prepare in any way before blood collection?
No fasting or dietary restriction is necessary. Please have available the patient’s most recent echocardiogram report, surgical notes (if applicable), and a completed three-generation pedigree chart for the genetic counselling session that accompanies the sample collection. The mobile phlebotomist will bring all necessary supplies and transport the specimen under cold-chain conditions directly to the DNA Labs UAE facility.
3. Is the cost of this genetic test covered by health insurance in the UAE?
Many UAE health insurance plans now include medically indicated congenital genetic testing. We offer a direct benefits check and pre-authorisation assistance via WhatsApp (+971 54 548 8731). Our billing team will issue a detailed medical necessity letter and supporting clinical documentation to streamline your reimbursement claim.
4. Can this test detect all genetic causes of transposition of the great arteries?
No. This test is specific to the MED13L gene only. While MED13L loss-of-function variants are a well-established monogenic cause of d-TGA, other genes such as GATA4, NKX2-5, CFC1, and ZIC3 are also associated with conotruncal defects. If the MED13L sequencing report is negative and clinical suspicion remains high, your genetic counsellor may recommend a broader congenital heart disease gene panel or whole-exome sequencing as a reflex option.
UAE Regulatory & Data Privacy Adherence
This test is performed under the regulatory oversight of the Dubai Health Authority (DHA) and complies with all applicable UAE federal laws governing genetic diagnostics and health data protection. Specifically, the laboratory adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) regarding the secure processing of genomic data, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for digital health record management and tele-counselling. Pre-test genetic counselling and written informed consent are mandatory for every referral. All laboratory processes are covered under ISO 9001:2015 Certificate INT/EGQ/2509DA/3139.
Clinical & Logistical Metadata
| Test Name | MED13L Gene Sequencing – Transposition of the Great Arteries (Dextro-Looped Type 1) |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 calendar days (3–4 weeks) from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube); VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq™ platform, 100× mean depth, ACMG/AMP variant classification |
| ICD-10-CM Code | Q20.3 – Discordant ventriculoarterial connection (Transposition of the great arteries, dextro-looped type 1) |
| LOINC Code | 94534-9 – MED13L gene sequencing |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Operated by DNA Labs UAE |
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