KCNJ11 Gene Hyperinsulinemic Hypoglycemia Type 2 NGS Genetic DNA Test
Understanding Congenital Hyperinsulinism and KCNJ11 Gene Testing
Congenital hyperinsulinism represents a complex metabolic disorder characterized by excessive insulin secretion from pancreatic beta cells, leading to persistent and potentially dangerous hypoglycemia in infants and children. The KCNJ11 Gene Hyperinsulinemic Hypoglycemia Type 2 NGS Genetic DNA Test specifically targets mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium (KATP) channel. This channel plays a fundamental role in regulating insulin secretion in response to blood glucose levels.
What Does the KCNJ11 Gene Test Measure?
Our advanced NGS-based genetic test provides comprehensive analysis of the KCNJ11 gene to identify pathogenic variants associated with hyperinsulinemic hypoglycemia type 2. The test specifically detects:
- Point mutations affecting potassium channel function
- Missense mutations disrupting ATP sensitivity
- Frameshift mutations causing protein truncation
- Splice site variants affecting gene expression
- Deletion and duplication events within the KCNJ11 locus
Who Should Consider KCNJ11 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with specific clinical indications:
Clinical Symptoms and Indications
- Neonates and infants with persistent hypoglycemia unresponsive to standard management
- Children with recurrent seizures or neurological symptoms related to low blood sugar
- Patients with family history of congenital hyperinsulinism
- Individuals requiring differential diagnosis from other forms of hypoglycemia
- Cases where diazoxide responsiveness needs genetic confirmation
Benefits of KCNJ11 Genetic DNA Testing
Early and accurate genetic diagnosis through our KCNJ11 test provides numerous clinical advantages:
Medical Management Benefits
- Enables targeted treatment strategies based on genetic findings
- Guides appropriate medication selection (diazoxide responsiveness prediction)
- Prevents long-term neurological damage from recurrent hypoglycemia
- Facilitates early intervention and monitoring protocols
- Provides crucial information for surgical decision-making when necessary
Family Planning and Genetic Counseling
- Enables accurate recurrence risk assessment for future pregnancies
- Supports informed reproductive decision-making
- Facilitates prenatal diagnosis when indicated
- Provides basis for family member screening and early detection
Understanding Your Test Results
Our comprehensive genetic testing report provides clear interpretation of your KCNJ11 gene analysis:
Result Interpretation Guidelines
- Positive Result: Identification of known pathogenic variant confirms diagnosis of hyperinsulinemic hypoglycemia type 2 and guides specific treatment approaches
- Negative Result: No pathogenic variants detected in KCNJ11 gene, suggesting alternative causes of hypoglycemia should be investigated
- Variant of Uncertain Significance (VUS): Identified genetic change requires additional clinical correlation and possibly family studies
- Carrier Status: Important for genetic counseling and family planning considerations
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | KCNJ11 Gene Hyperinsulinemic Hypoglycemia Type 2 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 |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members with hyperinsulinemic hypoglycemia
- Review of previous hypoglycemia management and response
Nationwide Testing Availability
We proudly offer our comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and medical professionals ensures accessible care regardless of your location.
Take Action Today
Don’t let uncertainty about congenital hyperinsulinism compromise your child’s health. Our specialized KCNJ11 genetic testing provides definitive answers and guides effective treatment strategies. Early diagnosis can prevent irreversible neurological damage and improve long-term outcomes.
Book your KCNJ11 Gene Hyperinsulinemic Hypoglycemia Type 2 NGS Genetic DNA Test today by calling our genetic specialists at +1(267) 388-9828 or schedule your appointment online. Take the first step toward accurate diagnosis and targeted management of congenital hyperinsulinism.
