KCNJ11 Gene Hyperinsulinemic hypoglycemia type 2 NGS Genetic Test
Short Name: KCNJ11 HH2 NGS Test
Also known as: HH2, KCNJ11-related hyperinsulinism, Congenital hyperinsulinism type 2
KCNJ11 Gene Hyperinsulinemic hypoglycemia type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the KCNJ11 Gene Hyperinsulinemic Hypoglycemia Type 2 NGS Genetic Test is to identify mutations in the KCNJ11 gene that cause HH2, enabling accurate diagnosis, appropriate treatment planning, genetic counseling, and family risk assessment to manage and prevent hypoglycemic episodes.
- Test Code
- 2088
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required for genetic testing alone. Genetic counseling recommended prior to testing to discuss implications.
Method: Venipuncture or blood spot on FTA card
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist using venipuncture or a blood spot collected on an FTA card.
Report Delivery
Apply pressure to the puncture site to stop bleeding and keep the area clean to prevent infection.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the KCNJ11 Gene Hyperinsulinemic Hypoglycemia Type 2 NGS Genetic Test is to identify mutations in the KCNJ11 gene that cause HH2, enabling accurate diagnosis, appropriate treatment planning, genetic counseling, and family risk assessment to manage and prevent hypoglycemic episodes.
How to Prepare
- Fast for 8-12 hours only if concurrent blood glucose tests are required; for genetic test only, no fasting is needed.
- Ensure proper patient identification and labeling of samples.
- Use aseptic technique during collection to avoid contamination.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for KCNJ11 mutations is essential for accurate diagnosis and management of hyperinsulinemic hypoglycemia type 2, helping to tailor treatment and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrectly labeled or contaminated samples
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of Hyperinsulinemic Hypoglycemia Type 2. Genetic counseling and targeted treatment recommended for management.
Negative for pathogenic mutations
No KCNJ11 mutations detected. Consider other genetic or non-genetic causes of hypoglycemia and further clinical evaluation.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing, family studies, and clinical correlation may be needed.
If you experience symptoms of hypoglycemia, have a family history of HH2, or receive a positive or uncertain test result, consult a geneticist or endocrinologist for further management and counseling.
Limitations
- ⚠May not detect all types of mutations
- ⚠Variants of uncertain significance may be identified
- ⚠Does not assess other genes involved in hyperinsulinism
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising, pain, or infection
- ●Psychological impact of genetic results, including anxiety or stress
Interfering Factors
- ●Poor sample quality
- ●DNA degradation
- ●Contamination
Compare With Similar Tests
| Test | KCNJ11 Gene Hyperinsulinemic hypoglycemia type 2 NGS Genetic Test | ABCC8 Gene NGS Test | Glucose Tolerance Test | Insulin Level Measurement |
|---|---|---|---|---|
| Comparison | KCNJ11 Gene Hyperinsulinemic hypoglycemia type 2 NGS Genetic Test | Tests for mutations in ABCC8 gene, another common cause of hyperinsulinism. | Assesses blood glucose response but does not identify genetic causes. | Measures insulin levels in blood to diagnose hyperinsulinism, but not specific genetic mutations. |
Frequently Asked Questions
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