Test Price
2,800 AEDโ Home Collection Available
KCNH2 Gene Short QT Syndrome Type 1 Genetic Test in UAE
Executive Summary & Core Metrics
Diagnostic Precision & Service Excellence
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- Post-Test Guidance: Telephonic consultation with a DHA-licensed Consultant Medical Geneticist to review results and coordinate care.
- Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test analyzes the entire coding region of the KCNH2 gene to detect pathogenic variants responsible for Short QT Syndrome Type 1, a rare inherited cardiac channelopathy that predisposes individuals to life-threatening arrhythmias and sudden cardiac death. Our assay delivers precise variant calling through high-throughput sequencing, enabling accurate diagnosis, cascade family screening, and personalised risk management.
| Feature | Our KCNH2 NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | High-throughput NGS, >99.9% accuracy for point mutations and small indels | Targeted gene sequencing, limited to known hotspots |
| Method | Next-Generation Sequencing (Illumina platform) with MLPA backup for CNVs | Sanger sequencing, no CNV detection |
| Speed | 3 โ 4 Weeks from sample receipt | 4 โ 6 Weeks, often outsourced |
Physician Insight & Safety Protocols
"A positive KCNH2 mutation alone does not establish a diagnosis of Short QT Syndrome; results must be integrated with electrocardiographic findings, family history, and clinical presentation. This test, paired with formal cardiogenetic counseling, equips families to make informed decisions about implantable cardioverter-defibrillators or lifestyle modifications. I strongly advise all patients to review their results with a cardiologist experienced in inherited arrhythmias."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Medication Advisory
Do not discontinue, adjust, or initiate any prescribed antiarrhythmic or beta-blocker therapy without consulting your treating physician. Genetic test results should complement, not replace, your current medical management plan.
Exclusion Criteria & Emergency Red Flags
- Acute symptoms: Do not undergo this test if you are currently experiencing chest pain, syncope, or palpitations without prior emergency medical evaluation.
- Minors: Genetic testing for individuals under 18 requires legally authorized consent and mandatory pre-test counseling as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Interpretation caution: A negative result does not exclude other channelopathies or idiopathic ventricular fibrillation.
- Family history: If you have a first-degree relative who experienced sudden cardiac death before age 40, immediate cardiological assessment is recommended prior to genetic testing.
Emergency Red Flags: Sudden fainting, seizures, or aborted cardiac arrest โ call 998 immediately.
Patient FAQ & Clinical Guidance
1. What is the KCNH2 gene and why is it tested?
The KCNH2 gene encodes a potassium channel critical for cardiac repolarisation. Pathogenic variants shorten the QT interval, predisposing to ventricular arrhythmias and sudden cardiac death. Testing confirms the genetic basis of Short QT Syndrome Type 1 and enables risk stratification for affected families.
2. How is the sample collected for this genetic test?
A DHA-licensed phlebotomist collects 5 mL of whole blood in an EDTA tube during a scheduled home visit. Alternatively, 2 ยตg of extracted DNA or a single drop of blood on an FTA card is accepted. All samples are transported via temperature-controlled cold chain to our CAP-accredited laboratory.
3. What does a positive result mean for my family?
A pathogenic KCNH2 variant identified in an index patient enables cascade screening of asymptomatic first-degree relatives. Early detection allows proactive measures such as implantable defibrillator placement, beta-blocker therapy, and lifestyle guidance to reduce the risk of sudden cardiac death.
UAE Regulatory & Data Privacy Adherence
Your genetic data is handled in strict compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governing the collection, processing, and storage of genomic and health information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ ensuring secure electronic health data exchange.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ safeguarding patient consent, clinical safety, and professional accountability.
All results are encrypted, access-restricted, and disclosed only with your explicit written authorization.
Clinical & Logistical Metadata
| Test Name | KCNH2 Gene Short QT Syndrome Type 1 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 โ 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA (โฅ2 ยตg), or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with MLPA Backup for CNVs |
| ICD-10-CM Code | I49.8 |
| LOINC Code | 81208-1 |
| DHA Facility License & Laboratory Address | License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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