ABCC8 Gene Hyperinsulinemic Hypoglycemia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Congenital Hyperinsulinism
The ABCC8 Gene Hyperinsulinemic Hypoglycemia Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for metabolic disorders. This advanced genetic test specifically targets the ABCC8 gene, which plays a critical role in regulating insulin secretion from pancreatic beta cells. When mutations occur in this gene, it can lead to congenital hyperinsulinism, a condition characterized by excessive insulin production that causes dangerously low blood sugar levels.
Hyperinsulinemic hypoglycemia type 1 is one of the most common causes of persistent hypoglycemia in newborns and infants. Early diagnosis through genetic testing is essential for preventing neurological damage and ensuring proper management of this potentially life-threatening condition. Our state-of-the-art NGS technology provides comprehensive analysis of the ABCC8 gene, offering unparalleled accuracy in detecting pathogenic variants.
What This Test Measures and Detects
The ABCC8 Gene Hyperinsulinemic Hypoglycemia Type 1 NGS Genetic DNA Test employs sophisticated Next-Generation Sequencing technology to examine the entire coding region of the ABCC8 gene. This comprehensive analysis detects:
- Point mutations affecting protein function
- Small insertions and deletions (indels)
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
- Both inherited and de novo genetic variations
The ABCC8 gene encodes the sulfonylurea receptor 1 (SUR1) protein, which forms part of the ATP-sensitive potassium channel in pancreatic beta cells. Mutations in this gene disrupt normal channel function, leading to unregulated insulin secretion and subsequent hypoglycemia. Our test provides detailed information about the specific genetic alteration, enabling precise diagnosis and targeted therapeutic interventions.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with the following symptoms or clinical scenarios:
Clinical Indications
- Newborns and infants with persistent hypoglycemia unresponsive to feeding
- Children experiencing recurrent seizures or neurological symptoms related to low blood sugar
- Individuals with family history of congenital hyperinsulinism
- Patients with developmental delays potentially linked to hypoglycemic episodes
- Infants requiring high glucose infusion rates to maintain normal blood sugar levels
- Cases where diazoxide therapy response needs genetic confirmation
Symptoms Warranting Testing
- Persistent low blood glucose levels below 50 mg/dL
- Jitteriness, tremors, or irritability in infants
- Lethargy or poor feeding patterns
- Seizures or abnormal eye movements
- Hypothermia or breathing difficulties
- Failure to thrive or growth retardation
Benefits of ABCC8 Genetic Testing
Undergoing the ABCC8 Gene Hyperinsulinemic Hypoglycemia Type 1 NGS Genetic DNA Test offers numerous clinical advantages:
Diagnostic Precision
- Provides definitive molecular diagnosis of congenital hyperinsulinism
- Differentiates between focal and diffuse forms of the disease
- Enables prediction of treatment response to specific medications
- Helps determine the need for surgical intervention
Clinical Management Benefits
- Guides appropriate medical therapy selection
- Facilitates early intervention to prevent neurological complications
- Supports genetic counseling for family planning
- Enables carrier testing for at-risk family members
- Provides prognostic information about disease severity
Long-term Advantages
- Prevents irreversible brain damage from recurrent hypoglycemia
- Reduces hospitalizations through proper disease management
- Improves quality of life through targeted treatment approaches
- Supports research and understanding of metabolic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your ABCC8 gene test results effectively:
Positive Results
A positive result indicates the presence of pathogenic mutations in the ABCC8 gene. This confirms the diagnosis of hyperinsulinemic hypoglycemia type 1 and provides valuable information for:
- Determining appropriate medical management strategies
- Predicting response to diazoxide therapy
- Assessing the risk of pancreatic surgery necessity
- Planning genetic testing for family members
Negative Results
A negative result suggests that no pathogenic variants were detected in the ABCC8 gene. However, this does not completely rule out congenital hyperinsulinism, as other genetic causes may be involved. Further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance
In some cases, genetic changes of unknown clinical significance may be identified. Our genetic counselors provide comprehensive guidance on the implications of such findings and recommend appropriate follow-up testing when necessary.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | ABCC8 Gene Hyperinsulinemic Hypoglycemia 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 |
| Specialty | General Physician, Genetics |
| Disease Category | Metabolic Disorders |
Pre-Test Requirements
To ensure accurate results and comprehensive care, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of family members affected with hyperinsulinemic hypoglycemia
- Review of previous laboratory findings and clinical presentations
Nationwide Testing Availability
We have conveniently located branches across the United States, making genetic testing accessible to patients nationwide. Our state-of-the-art facilities in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia ensure that you receive the highest quality genetic testing services close to home.
Take Control of Your Genetic Health Today
Don’t let uncertainty about congenital hyperinsulinism affect your family’s wellbeing. Our ABCC8 Gene Hyperinsulinemic Hypoglycemia Type 1 NGS Genetic DNA Test provides the clarity needed for effective medical management and informed decision-making. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing without financial burden.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Early genetic diagnosis can prevent serious neurological complications and ensure proper management of hyperinsulinemic hypoglycemia. Take the first step toward understanding your genetic health – schedule your ABCC8 genetic test today.
