KCNQ1 Gene Jervell and Lange-Nielsen Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Inherited Cardiac Arrhythmia Disorders
The KCNQ1 Gene Jervell and Lange-Nielsen Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in cardiovascular genetic diagnostics, offering precise detection capabilities for a rare but serious inherited condition. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to identify mutations in the KCNQ1 gene that are responsible for Jervell and Lange-Nielsen syndrome type 1—a disorder characterized by congenital deafness and severe cardiac arrhythmias that can lead to sudden cardiac death.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the KCNQ1 gene, which encodes a critical potassium channel protein essential for normal cardiac electrical activity. The test identifies:
- Pathogenic variants in the KCNQ1 gene that disrupt potassium channel function
- Genetic mutations associated with prolonged QT intervals on electrocardiograms
- Inherited variants that cause both hearing impairment and cardiac conduction abnormalities
- Autosomal recessive inheritance patterns characteristic of Jervell and Lange-Nielsen syndrome
- Specific genetic markers that guide personalized treatment and management strategies
Who Should Consider This Genetic Test
This specialized genetic screening is recommended for individuals presenting with specific clinical indications:
- Children or adults with congenital sensorineural hearing loss
- Individuals with family history of sudden cardiac death or unexplained syncope
- Patients with documented prolonged QT interval on electrocardiogram
- Those with relatives diagnosed with Jervell and Lange-Nielsen syndrome
- Individuals experiencing unexplained fainting spells, especially during physical activity or emotional stress
- Patients with hearing impairment and additional cardiac symptoms
Clinical Benefits of Genetic Testing
Early detection through genetic testing provides numerous advantages for patient care and management:
- Proactive Risk Management: Enables early intervention strategies to prevent life-threatening arrhythmias
- Personalized Treatment Planning: Guides appropriate medication selection and dosage adjustments
- Family Screening Opportunities: Identifies at-risk relatives who may benefit from preventive measures
- Comprehensive Care Coordination: Facilitates multidisciplinary approach involving cardiologists, geneticists, and audiologists
- Lifestyle Guidance: Provides specific recommendations regarding physical activity restrictions and medication avoidance
- Reproductive Planning: Offers genetic counseling for family planning decisions
Understanding Your Test Results
Genetic test results are carefully interpreted by our team of certified genetic counselors and cardiologists:
- Positive Result: Indicates the presence of pathogenic KCNQ1 gene mutations, confirming diagnosis and enabling targeted management
- Negative Result: Suggests absence of tested mutations, though clinical evaluation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring ongoing monitoring
- Carrier Status: Detects individuals who carry one copy of the mutation but typically do not develop the full syndrome
All positive results include comprehensive genetic counseling to discuss implications, management strategies, and family testing recommendations.
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | KCNQ1 Gene Jervell and Lange-Nielsen Syndrome Type 1 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Preparation Requirements
To ensure optimal testing accuracy and comprehensive care, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Current cardiac evaluation and hearing assessment records
- Informed consent for genetic testing and result disclosure
Nationwide Accessibility and Convenience
We maintain comprehensive testing facilities across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services regardless of your location.
Take Control of Your Cardiac Health Today
Don’t wait to address potential genetic cardiac risks. Early detection through genetic testing can be life-saving. Our team of specialized cardiologists and genetic counselors are ready to provide comprehensive care and support throughout your testing journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your KCNQ1 Gene Jervell and Lange-Nielsen Syndrome Type 1 NGS Genetic DNA Test. Take the first step toward understanding your genetic cardiac health and implementing proactive management strategies for you and your family.
