AGK Gene Sengers Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Sengers Syndrome
The AGK Gene Sengers Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the AGK (acylglycerol kinase) gene, which are responsible for Sengers syndrome—a rare autosomal recessive mitochondrial disorder. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide comprehensive evaluation of the AGK gene, enabling precise detection of pathogenic variants that disrupt mitochondrial function and cellular energy production.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets and sequences the entire AGK gene to identify:
- Point mutations, insertions, and deletions in the AGK gene
- Pathogenic variants affecting mitochondrial phospholipid metabolism
- Genetic abnormalities that impair mitochondrial DNA maintenance
- Inheritance patterns through comprehensive variant analysis
- Specific mutations associated with cardiovascular and respiratory manifestations
Who Should Consider This Genetic Test?
This specialized testing is recommended for individuals presenting with:
- Unexplained hypertrophic cardiomyopathy in infancy or childhood
- Congenital cataracts with associated cardiac symptoms
- Mitochondrial myopathy with exercise intolerance and muscle weakness
- Developmental delays accompanied by cardiac abnormalities
- Family history of Sengers syndrome or similar mitochondrial disorders
- Unexplained lactic acidosis with cardiac involvement
- Suspected mitochondrial disease with multisystem involvement
Clinical Benefits of AGK Gene Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Sengers syndrome with high accuracy
- Personalized Treatment: Enables targeted management strategies for cardiac and respiratory symptoms
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely management of potentially life-threatening cardiac complications
- Prognostic Information: Helps predict disease progression and anticipate clinical needs
- Research Contribution: Advances understanding of rare mitochondrial disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates the presence of pathogenic AGK gene mutations confirming Sengers syndrome diagnosis
- Negative Result: Suggests absence of detectable AGK mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| AGK Gene Sengers Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| AGK Gene Sengers Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
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 other cities. Our network of certified genetic counselors and specialized cardiology genetics departments ensures comprehensive care regardless of your location.
Schedule Your Genetic Test Today
Take the first step toward definitive diagnosis and personalized care. Our expert genetic counseling team is available to discuss your testing options and provide comprehensive pre-test guidance. Contact us today to schedule your appointment and begin your journey toward accurate diagnosis and effective management.
Call or WhatsApp: +1(267) 388-9828 to book your AGK Gene Sengers Syndrome NGS Genetic DNA Test and receive expert genetic counseling tailored to your specific needs.
