Test Price
2,800 AED✅ Home Collection Available
TMEM43 Gene Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Genetic Test | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity and specificity via ISO-accredited next-generation sequencing for complete TMEM43 coding region coverage.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test genetic counseling session included to explain your results and coordinate with your cardiologist.
- Insurance: Direct billing verification available via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The TMEM43 gene sequencing test identifies pathogenic and likely pathogenic variants causing arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5), a highly penetrant inherited heart muscle disorder characterized by fibrofatty replacement of the right ventricular myocardium. This molecular analysis provides definitive genetic diagnosis, enables cascade screening of at-risk family members, and informs implantable cardioverter-defibrillator (ICD) placement decisions. Testing is performed using next-generation sequencing (NGS) with full coverage of all coding exons and flanking intronic regions, achieving 99.9% analytical sensitivity and specificity.
| Feature | Our NGS Test | Traditional Clinical Diagnosis |
|---|---|---|
| Precision | 99.9% analytical sensitivity and specificity for TMEM43 coding region | Based on 2010 Task Force Criteria (ECG, imaging, biopsy) without molecular confirmation |
| Method | Next-Generation Sequencing (NGS) with full gene coverage including splice sites | Cardiac MRI, echocardiography, Holter monitoring, endomyocardial biopsy, family history scoring |
| Speed | 3–4 weeks from sample collection to final report | Often requires months of serial assessments with potential for ambiguous or inconclusive results |
Physician Insight & Safety Protocols
“A definitive molecular diagnosis of ARVC5 through TMEM43 sequencing transforms uncertainty into actionable cardiac surveillance. As a clinical geneticist, I emphasize that this result must be interpreted alongside a three-generation pedigree, a detailed cardiac phenotype, and electrocardiographic data. A positive finding does not dictate immediate intervention—rather, it equips you and your cardiologist with the precise risk information needed to tailor monitoring, lifestyle adjustments, and, when indicated, ICD candidacy. Post-test genetic counseling is an essential part of this pathway, not an optional add-on.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory Notice – Medication Continuity
Do not pause, adjust, or discontinue any prescribed cardiac medication—including beta-blockers, antiarrhythmics, or anticoagulants—based solely on genetic test results. Genetic information augments clinical judgment; it does not replace it. Always consult your treating cardiologist before making changes to your therapy.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Individuals currently experiencing acute coronary syndrome, sustained ventricular tachycardia, hemodynamic instability, or decompensated heart failure are not eligible for elective genetic testing and must seek immediate emergency care.
- Emergency Red Flags: If you develop sudden chest pain, syncope (fainting), unexplained shortness of breath, or rapid palpitations with dizziness, call 998 or visit the nearest emergency department. Genetic testing should never delay acute medical management.
- Pediatric Limitation: This test is intended for individuals aged 18 years and older unless specifically ordered by a pediatric cardiologist with documented clinical indication and appropriate informed consent in accordance with UAE federal regulations on genetic testing of minors.
Patient FAQ & Clinical Guidance
1. What exactly does the TMEM43 NGS test detect and how accurate is it?
This next-generation sequencing test detects pathogenic and likely pathogenic variants in the TMEM43 gene associated with arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5), a condition with nearly complete penetrance by middle age. The assay covers all coding exons, splice junctions, and flanking intronic regions with 99.9% analytical sensitivity and specificity. Variants are interpreted according to ACMG/AMP guidelines and correlated with your clinical phenotype. Results are delivered as a comprehensive molecular report that your cardiologist and genetic counselor can use to guide risk stratification and family screening.
2. Who should consider taking this genetic test in the UAE?
The test is indicated for individuals with a personal or family history suggestive of ARVC, including unexplained syncope, ventricular arrhythmias, right ventricular structural abnormalities on cardiac imaging, or sudden cardiac death in a first-degree relative under age 50. Cardiologists, sports medicine physicians, and clinical geneticists often recommend it for athletes undergoing pre-participation cardiac screening and for asymptomatic relatives once a familial TMEM43 mutation has been identified. A mandatory pre-test genetic counseling session is required to construct a three-generation pedigree and confirm the appropriateness of testing.
3. How does insurance billing work and can I have the blood drawn at home?
Direct insurance billing verification is available through our WhatsApp service at +971 54 548 8731. Our team will confirm your coverage and obtain any required pre-authorization. For sample collection, our VIP Mobile Phlebotomy service operates daily from 8 AM to 11 PM, using ISO 9001:2015 certified cold-chain protocols to maintain specimen integrity from your home to our DHA-licensed laboratory. After your report is issued, you will receive a telephonic post-test genetic counseling session to explain the results in plain language and coordinate next steps with your cardiologist.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed under the oversight of DNA Labs UAE, DHA Facility License Number 1143, located at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. All operations comply with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for the collection, storage, and processing of genetic data, and with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for digital health information governance. Clinical testing safety, informed consent, and patient rights are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory maintains ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) for quality management systems.
Clinical & Logistical Metadata
| Test Name | TMEM43 Gene Sequencing – Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 (ARVC5) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (21–28 calendar days) from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL collected in EDTA tube); VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) with full coding region coverage, splice site analysis, and variant confirmation by Sanger sequencing |
| ICD-10-CM Code | I42.80 (Other cardiomyopathies, arrhythmogenic right ventricular cardiomyopathy) |
| LOINC Code | 90553-2 (Gene mutations identified in Specimen by Sequencing) |
| 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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