SCN5A Gene Sudden Infant Death Syndrome Susceptibility NGS Genetic DNA Test
Understanding SCN5A Gene Testing for SIDS Risk Assessment
The SCN5A Gene Sudden Infant Death Syndrome Susceptibility NGS Genetic DNA Test represents a significant advancement in pediatric cardiology and genetic medicine. This specialized diagnostic examination focuses on identifying mutations in the SCN5A gene, which encodes the cardiac sodium channel Nav1.5. Disruptions in this critical protein can lead to life-threatening cardiac arrhythmias that may contribute to sudden infant death syndrome (SIDS).
Sudden infant death syndrome remains one of the most devastating and mysterious conditions affecting infants under one year of age. The integration of genetic testing into SIDS risk assessment provides families and healthcare providers with valuable insights that were previously unavailable. By identifying genetic predispositions early, preventive measures can be implemented to protect vulnerable infants.
What Does the SCN5A Gene Test Measure?
This comprehensive genetic analysis utilizes next-generation sequencing (NGS) technology to examine the complete coding region of the SCN5A gene. The test specifically detects:
- Pathogenic variants and mutations in the SCN5A gene sequence
- Single nucleotide polymorphisms associated with cardiac conduction abnormalities
- Deletions, insertions, and other structural variations affecting gene function
- Known and novel mutations that may disrupt sodium channel function
The SCN5A gene plays a crucial role in regulating the electrical activity of the heart by controlling sodium ion flow across cardiac cell membranes. Mutations in this gene can lead to various cardiac channelopathies, including Brugada syndrome and long QT syndrome type 3, both of which have been linked to increased SIDS risk.
Who Should Consider SCN5A Genetic Testing?
This test is particularly recommended for:
Families with SIDS History
- Parents who have lost an infant to SIDS and are planning future pregnancies
- Families with multiple unexplained infant deaths
- Relatives of infants who died from SIDS with suspected cardiac involvement
Infants with Concerning Symptoms
- Newborns with unexplained arrhythmias or abnormal ECG findings
- Infants with family history of inherited cardiac conditions
- Babies exhibiting episodes of apnea or cyanosis
Preventive Screening Candidates
- Families with known SCN5A mutations seeking cascade testing
- Parents with personal history of cardiac arrhythmias
- Couples undergoing pre-conception genetic counseling
Benefits of SCN5A Genetic Testing
Undergoing SCN5A genetic testing provides numerous advantages for families and healthcare providers:
- Early Risk Identification: Detect genetic predispositions before symptoms manifest
- Personalized Prevention Strategies: Implement targeted monitoring and interventions
- Family Planning Guidance: Make informed decisions about future pregnancies
- Peace of Mind: Reduce anxiety through comprehensive risk assessment
- Medical Management Optimization: Guide appropriate cardiac monitoring and treatment
- Scientific Contribution: Advance understanding of SIDS genetic factors
Understanding Your Test Results
Genetic test results require careful interpretation by qualified medical professionals. Our comprehensive reporting includes:
Positive Results
A positive result indicates the presence of a pathogenic SCN5A mutation. This finding suggests increased susceptibility to cardiac arrhythmias and potential SIDS risk. Positive results trigger:
- Immediate consultation with a pediatric cardiologist
- Development of personalized monitoring protocols
- Family member testing recommendations
- Implementation of preventive measures
Negative Results
A negative result means no known pathogenic mutations were detected in the SCN5A gene. However, this does not completely eliminate SIDS risk, as other genetic and environmental factors may contribute. Negative results provide:
- Reassurance regarding specific SCN5A-related risks
- Guidance for continued standard SIDS prevention practices
- Consideration of additional genetic testing if clinical suspicion remains
Variant of Uncertain Significance (VUS)
Some genetic changes have unclear clinical implications. VUS results require:
- Ongoing research correlation
- Periodic re-evaluation as scientific knowledge advances
- Clinical correlation with family history and symptoms
Test Pricing and Details
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Methodology: Next-Generation Sequencing (NGS) Technology
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session prior to testing
- Development of a detailed family pedigree chart
- Documentation of any family members affected by cardiac conditions or SIDS
Nationwide Access and Support
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and cardiology specialists ensures you receive comprehensive care regardless of your location.
Take Action Today
Don’t wait to get the answers you need for your family’s health and peace of mind. Our dedicated team of genetic specialists is ready to guide you through the testing process and provide the support you need.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your SCN5A genetic test. Early detection could make all the difference in protecting your family’s future.
Our commitment to excellence in genetic testing, combined with our nationwide presence and comprehensive support services, makes us the trusted choice for families seeking answers about SIDS susceptibility. Contact us now to begin your journey toward understanding and prevention.
