GLUD1 Gene Hyperinsulinemic Hypoglycemia Type 6 NGS Genetic DNA Test
Comprehensive Genetic Testing for Congenital Hyperinsulinism
The GLUD1 Gene Hyperinsulinemic Hypoglycemia Type 6 NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals suffering from persistent hypoglycemia. This specialized genetic test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the GLUD1 gene, which plays a critical role in regulating insulin secretion and glucose metabolism. Understanding the genetic basis of hyperinsulinemic hypoglycemia is essential for developing targeted treatment strategies and preventing long-term neurological complications.
What Does This Test Measure and Detect?
Our advanced NGS genetic test specifically targets the GLUD1 gene, which encodes glutamate dehydrogenase – a key enzyme in the insulin secretion pathway. The test detects:
- Point mutations and small insertions/deletions in the GLUD1 gene
- Genetic variants associated with Hyperinsulinemic Hypoglycemia Type 6
- Inheritance patterns of congenital hyperinsulinism
- Specific mutations that affect glutamate dehydrogenase activity
- Genetic markers that differentiate between various forms of hyperinsulinemia
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Persistent or recurrent hypoglycemia in infancy or childhood
- Unexplained seizures or neurological symptoms related to low blood sugar
- Family history of congenital hyperinsulinism or metabolic disorders
- Hyperinsulinism that doesn’t respond to conventional treatments
- Developmental delays associated with hypoglycemic episodes
- Suspected glutamate dehydrogenase hyperactivity syndrome
- Infants with macrosomia and hypoglycemia at birth
Clinical Benefits of GLUD1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Differentiates Hyperinsulinemic Hypoglycemia Type 6 from other forms
- Personalized Treatment: Guides medication selection and dietary management
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Enables proactive management to prevent complications
- Risk Assessment: Identifies at-risk family members for screening
- Improved Outcomes: Reduces long-term neurological damage from recurrent hypoglycemia
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates a pathogenic mutation in the GLUD1 gene, confirming Hyperinsulinemic Hypoglycemia Type 6 diagnosis
- Negative Result: Suggests other causes for hypoglycemia should be investigated
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
All results include detailed explanations and recommendations for follow-up care with your healthcare provider.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | GLUD1 Gene Hyperinsulinemic Hypoglycemia Type 6 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 | Metabolic Genetics |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history of the patient
- Genetic counseling session to create a family pedigree chart
- Documentation of family members affected with hyperinsulinemic hypoglycemia
- Consultation with a metabolic specialist or endocrinologist
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, San Jose, and many more. Our network of certified genetic counselors and metabolic specialists ensures you receive comprehensive care regardless of your location.
Take Control of Your Health Today
Don’t let unexplained hypoglycemia control your life. Our GLUD1 genetic test provides the answers you need for proper diagnosis and treatment. With our limited-time discount of $500 USD (regularly $700 USD), advanced genetic testing has never been more accessible.
Call us now at +1(267) 388-9828 to schedule your consultation and genetic testing appointment. Our genetic specialists are available to answer your questions and guide you through the testing process.
Early diagnosis and proper management of Hyperinsulinemic Hypoglycemia Type 6 can significantly improve quality of life and prevent serious complications. Take the first step toward understanding your condition and achieving better health outcomes.
