ABCC8 Gene Hypoglycemia of Infancy Leucine-Sensitive NGS Genetic DNA Test
Comprehensive Genetic Testing for Infant Hypoglycemia
The ABCC8 Gene Hypoglycemia of Infancy Leucine-Sensitive NGS Genetic DNA Test represents a breakthrough in pediatric metabolic disorder diagnostics. This advanced genetic test specifically targets mutations in the ABCC8 gene, which plays a critical role in regulating insulin secretion from pancreatic beta cells. When this gene malfunctions, it can lead to congenital hyperinsulinism, a condition characterized by excessive insulin production that causes dangerously low blood sugar levels in infants and young children.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the ABCC8 gene to identify:
- Point mutations and single nucleotide variants in the ABCC8 gene
- Small insertions and deletions affecting gene function
- Genetic variations associated with leucine-sensitive hypoglycemia
- Mutations that disrupt the normal function of the sulfonylurea receptor
- Inherited patterns of congenital hyperinsulinism
Who Should Consider This Test
This specialized genetic test is recommended for infants and children presenting with:
- Persistent or recurrent hypoglycemia in infancy
- Low blood sugar that worsens after protein-rich meals
- Family history of congenital hyperinsulinism
- Unexplained seizures or neurological symptoms in infancy
- Failure to thrive despite adequate nutrition
- Hypoglycemia unresponsive to standard treatments
Clinical Benefits of Genetic Testing
Early genetic diagnosis through our ABCC8 test provides numerous advantages:
- Accurate diagnosis guiding targeted treatment approaches
- Personalized dietary management strategies
- Prevention of neurological damage from recurrent hypoglycemia
- Family planning and genetic counseling opportunities
- Improved long-term developmental outcomes
- Reduced hospitalizations through proper management
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates the presence of ABCC8 gene mutations associated with congenital hyperinsulinism. This confirms the diagnosis and helps guide specific treatment options, including diazoxide therapy or surgical interventions.
- Negative Result: Suggests that ABCC8 gene mutations are not the cause of hypoglycemia, directing further investigation toward other genetic or metabolic causes.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or functional testing to determine their clinical significance.
Test Pricing Information
| Test Feature | Details |
|---|---|
| Test Name | ABCC8 Gene Hypoglycemia of Infancy Leucine-Sensitive NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many other cities. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of your location.
Take the Next Step Toward Diagnosis
Don’t let unexplained hypoglycemia in your child go undiagnosed. Our ABCC8 genetic test provides the answers you need to develop an effective treatment plan and protect your child’s neurological development. Early intervention is crucial for preventing long-term complications associated with congenital hyperinsulinism.
Ready to schedule your genetic test? Call our dedicated genetic counseling team today at +1(267) 388-9828 or book your appointment online. Our specialists are available to discuss your concerns, explain the testing process, and help you take the first step toward accurate diagnosis and effective management of infant hypoglycemia.
