Test Price
2,800 AEDโ Home Collection Available
KCNQ1 Gene Jervell and Lange-Nielsen Syndrome Type 1 Genetic Test in UAE | 2800 AED | DHA Licensed Facility
Executive Summary & Core Metrics
Executive Summary: The KCNQ1 genetic test employs Next Generation Sequencing (NGS) technology to deliver targeted mutation analysis for Jervell and Lange-Nielsen Syndrome (JLNS) with a diagnostic sensitivity of 99.9% across our ISO 9001:2015 accredited laboratory facility. We provide integrated VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection services, complemented by telephonic post-result clinical guidance for comprehensive result interpretation. Direct insurance billing verification is available via WhatsApp.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The KCNQ1 genetic test screens for pathogenic mutations in the KCNQ1 gene responsible for Jervell and Lange-Nielsen Syndrome (JLNS), an autosomal recessive form of long QT syndrome characterized by congenital sensorineural deafness and prolonged QT interval. This Next Generation Sequencing assay delivers comprehensive variant detection across the entire coding region, enabling precise diagnosis, risk stratification, and family cascade screening. The test is indicated for individuals with clinical suspicion of JLNS, unexplained syncope, family history of sudden cardiac death, or bilateral congenital deafness with prolonged QT interval on ECG.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Precision | 99.9% sensitivity for KCNQ1 variants | 95-98% via traditional Sanger panels |
| Method | Next Generation Sequencing (NGS) | Sanger sequencing or limited gene panel |
| Turnaround | 3-4 Weeks | 6-8 Weeks |
Physician Insight & Safety Protocols
"The KCNQ1 gene encodes the Kv7.1 potassium channel critical for cardiac repolarization and inner ear function. A pathogenic mutation alone does not establish a JLNS diagnosis; integrated interpretation with ECG findings, personal symptoms, and a detailed three-generation family pedigree is essential for accurate clinical management. Pre-test genetic counselling is mandatory, and any result must be contextualized by a consultant medical geneticist before treatment decisions are made."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication Continuity & Clinical Supervision
Critical Medication Advisory
Do not discontinue, adjust, or initiate any prescribed medication โ including beta-blockers, antiarrhythmics, or potassium-channel modulating agents โ without direct consultation with your treating cardiologist or genetic specialist. Abrupt cessation of antiarrhythmic therapy in long QT syndrome may precipitate life-threatening arrhythmias. This genetic test result is intended to inform, not replace, ongoing clinical management.
Safety Exclusion Criteria & Clinical Red Flags
Do Not Proceed with Elective Genetic Testing If:
- Severe anemia (Hemoglobin < 7 g/dL) or recent blood transfusion (< 3 months) โ may compromise DNA yield and variant detection accuracy.
- Active systemic infection, febrile illness, or inability to provide informed consent.
- Emergency presentation: Sudden collapse, witnessed syncope, seizure-like episode, or acute palpitations โ these require immediate cardiology evaluation, not outpatient genetic testing.
- Family history of sudden cardiac death in a first-degree relative under age 40 โ urgent cardiology referral is indicated.
Patient FAQ & Clinical Guidance
1. What is the KCNQ1 Jervell and Lange-Nielsen syndrome genetic test?
This test detects pathogenic mutations in the KCNQ1 gene that cause Jervell and Lange-Nielsen Syndrome (JLNS), an inherited long QT syndrome accompanied by congenital deafness. The comprehensive NGS analysis enables precise diagnosis, risk assessment for arrhythmias, and guides family screening and therapeutic decisions including beta-blocker therapy and lifestyle modifications.
2. How is the test performed and what sample is required?
A peripheral blood sample (EDTA whole blood, 3-5 mL) is collected via our VIP Mobile Phlebotomy service at your home between 8 AM and 11 PM. Alternatively, extracted DNA (minimum 1 ยตg) or a single dried blood spot on an FTA card is acceptable. Samples containing heparin are strictly prohibited as heparin inhibits PCR amplification. The sample is transported under temperature-controlled cold chain to our ISO-accredited laboratory for NGS analysis of the entire KCNQ1 coding region.
3. How long do results take and can the process be expedited?
The standard turnaround time is 3 to 4 weeks from sample receipt. Expedited processing is not available due to the complex multi-step NGS workflow including library preparation, sequencing, bioinformatic analysis, and clinical variant interpretation. You will receive a comprehensive report detailing detected variants, ACMG classification, and clinical recommendations.
4. What does a positive result mean for my family members?
JLNS is inherited in an autosomal recessive pattern โ both parents are typically carriers. A positive result in a child indicates that each sibling has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected. Cascade genetic testing for first-degree relatives is strongly recommended and can be arranged through our genetics department with appropriate pre-test counselling.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection Framework: This genetic test is conducted at a DHA-licensed facility (License No. 1143) operating in full compliance with 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. All genetic data is encrypted, access-controlled, and processed exclusively within UAE jurisdiction. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic information remains strictly confidential and will not be shared with third parties without your explicit written consent.
Clinical & Logistical Metadata
| Test Name | KCNQ1 Gene Jervell and Lange-Nielsen Syndrome Type 1 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Peripheral Blood (EDTA Whole Blood), Extracted DNA, or FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) โ Whole Coding Region Analysis |
| ICD-10-CM Code | I45.81 (Long QT syndrome) |
| LOINC Code | 94477-3 (KCNQ1 gene mutation analysis) |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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