KCNH2 Gene Short QT Syndrome Type 1 NGS Genetic DNA Test
Understanding KCNH2 Gene Short QT Syndrome Type 1
The KCNH2 Gene Short QT Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in cardiac genetic diagnostics, offering precise detection of mutations responsible for this rare but potentially fatal inherited heart condition. Short QT Syndrome Type 1 is caused by specific genetic variations in the KCNH2 gene, which encodes the potassium channel responsible for regulating the heart’s electrical activity. This condition disrupts normal cardiac repolarization, leading to dangerously shortened QT intervals and increased susceptibility to life-threatening arrhythmias.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based analysis specifically targets the KCNH2 gene to identify pathogenic variants associated with Short QT Syndrome Type 1. The test examines:
- Complete coding regions of the KCNH2 gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants linked to cardiac arrhythmias
- Novel genetic variations with potential clinical significance
- Inheritance patterns for family risk assessment
Who Should Consider KCNH2 Genetic Testing?
This specialized genetic test is recommended for individuals experiencing specific symptoms or with concerning family history:
Clinical Indications and Symptoms
- Unexplained syncope or fainting episodes
- Family history of sudden cardiac death
- Abnormally short QT interval on ECG (<340 ms)
- Recurrent atrial fibrillation at young age
- Palpitations or irregular heartbeats
- Family members diagnosed with Short QT Syndrome
- Unexplained seizures or cardiac arrest
- Young individuals with ventricular arrhythmias
Comprehensive Benefits of Genetic Testing
Undergoing KCNH2 genetic testing provides numerous advantages for patients and their families:
Early Risk Identification
Genetic testing enables early detection of Short QT Syndrome before symptoms become life-threatening, allowing for proactive management and preventive measures.
Personalized Treatment Planning
Positive results guide cardiologists in developing targeted treatment strategies, including medication selection, lifestyle modifications, and potential device implantation.
Family Screening Opportunities
Identified genetic mutations allow for systematic family screening, helping protect relatives who may be at risk but unaware of their genetic predisposition.
Reproductive Decision Support
Genetic information assists in family planning decisions and provides options for preventing transmission to future generations.
Understanding Your Test Results
Our comprehensive genetic counseling ensures you fully understand your test outcomes:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic KCNH2 mutation associated with Short QT Syndrome Type 1. This finding requires:
- Immediate consultation with a cardiac electrophysiologist
- Comprehensive cardiac evaluation including ECG and echocardiogram
- Discussion of treatment options including medications and ICD consideration
- Family member screening recommendations
Negative Result Significance
A negative result suggests no known pathogenic KCNH2 mutations were detected. However, clinical follow-up may still be necessary if symptoms persist, as other genetic or non-genetic factors could be involved.
Variant of Uncertain Significance
Some genetic variations may have unclear clinical implications. In such cases, ongoing monitoring and periodic re-evaluation are recommended as scientific knowledge advances.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | KCNH2 Gene Short QT Syndrome Type 1 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements and Preparation
To ensure accurate results and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session before testing
- Detailed pedigree chart of family members affected by cardiac conditions
- Recent ECG and cardiac evaluation reports
- Informed consent for genetic testing
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and cardiac specialists ensures you receive comprehensive care regardless of your location.
Take Control of Your Cardiac Health Today
Don’t wait for symptoms to escalate. Early genetic testing for Short QT Syndrome can be life-saving. Our expert team of genetic counselors and cardiac specialists are ready to guide you through the testing process and provide personalized recommendations based on your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your KCNH2 Gene Short QT Syndrome Type 1 NGS Genetic DNA Test. Take the first step toward understanding your cardiac genetic risk and protecting your heart health for years to come.
