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KCNJ11 Gene Hyperinsulinemic hypoglycemia type 2 NGS Genetic Test

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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.

Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

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)
Step 1

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

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using venipuncture or a blood spot collected on an FTA card.

Step 3

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

1
Before the Test:Consult with a genetic counselor to understand the test implications, provide informed consent, and discuss family history.
2
During the Test:The test involves next-generation sequencing of the KCNJ11 gene from the provided DNA sample, analyzed in a certified laboratory.
3
After the Test:Wait for the report, which will be delivered within 3-4 weeks via online portal, email, or WhatsApp. Discuss results with your healthcare provider.

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 — 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 TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS analysis
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood spot on FTA card

Sample Stability

Room Temperature
Refrigerated
Frozen
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrectly labeled or contaminated samples

Understanding Your Results

The results of the KCNJ11 Gene NGS Test indicate the presence or absence of pathogenic mutations in the KCNJ11 gene, which are associated with Hyperinsulinemic Hypoglycemia Type 2.
📊

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.

⚠️ When to Consult a Doctor:

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

TestKCNJ11 Gene Hyperinsulinemic hypoglycemia type 2 NGS Genetic TestABCC8 Gene NGS TestGlucose Tolerance TestInsulin Level Measurement
ComparisonKCNJ11 Gene Hyperinsulinemic hypoglycemia type 2 NGS Genetic TestTests 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

What is KCNJ11 Gene Hyperinsulinemic Hypoglycemia Type 2?
It is a rare genetic disorder caused by mutations in the KCNJ11 gene, leading to excessive insulin production from the pancreas and dangerously low blood sugar levels.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the KCNJ11 gene from a blood sample or extracted DNA, detecting mutations associated with HH2.
What are the symptoms of this condition?
Symptoms include seizures, tremors, confusion, dizziness, weakness, sweating, and hunger due to hypoglycemia, which can be life-threatening if untreated.
Who should consider this test?
Individuals with unexplained hypoglycemia, family history of HH2, symptoms suggestive of the disorder, or those undergoing genetic counseling.
What is the cost of the test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India for convenience.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection, delivered via online portal, email, or WhatsApp.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the KCNJ11 gene, confirming the diagnosis of Hyperinsulinemic Hypoglycemia Type 2 and guiding treatment.
Are there any risks to the test?
The test involves a standard blood draw with minimal risks such as bruising or infection. Genetic results may have psychological implications, so counseling is advised.
How accurate is the NGS genetic test?
NGS technology provides high accuracy for detecting mutations in the KCNJ11 gene, but variants of uncertain significance may be identified, requiring further evaluation.
Can this test be used for prenatal diagnosis?
Yes, if the specific pathogenic mutation is known in the family, prenatal testing can be arranged through genetic counseling for family planning.
What should I do after receiving the results?
Consult with a genetic counselor or healthcare provider to understand the results, discuss management options, and consider family testing or genetic counseling.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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