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DNA Labs India

UCP2 Gene Hyperinsulinism, UCP2 related NGS Genetic Test

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UCP2 Gene Hyperinsulinism, UCP2 related NGS Genetic Test

Short Name: UCP2 NGS Test

Also known as: UCP2 Gene Mutation Test, Hyperinsulinism Genetic Test, NGS for UCP2

UCP2 Gene Hyperinsulinism, UCP2 related 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 Reports are typically available within 3 to 4 weeks after sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect mutations in the UCP2 gene that cause hyperinsulinism. It aids in confirming diagnosis, understanding genetic inheritance, guiding treatment decisions, and providing genetic counseling for families.

Test Code
2090
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks after sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Provide detailed clinical history and family pedigree during genetic counseling session.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

A small blood sample will be collected via venipuncture or a blood drop on an FTA card by a trained professional.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities immediately.

Timeline: Reports are typically available within 3 to 4 weeks after sample receipt at the laboratory.

Patient Instructions

1
Before the Test:No specific preparation needed. A genetic counseling session is advised to discuss family history and test implications.
2
During the Test:Simple blood draw or FTA card sample collection, typically completed in a few minutes.
3
After the Test:Sample is sent to the laboratory for NGS analysis. Report will be delivered in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the UCP2 gene that cause hyperinsulinism. It aids in confirming diagnosis, understanding genetic inheritance, guiding treatment decisions, and providing genetic counseling for families.

How to Prepare

  • Fasting is not required for this genetic test
  • Ensure proper labeling of the sample with patient details
  • Store blood samples at room temperature and transport as per lab guidelines
  • Use FTA card for convenient home collection if applicable

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for UCP2 mutations can guide treatment and prevent complications in hyperinsulinism, especially in pediatric cases."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per lab requirements
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood samples stable at room temperature for up to 24 hours
FTA cards stable for extended periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the UCP2 gene. Genetic counseling is essential for proper interpretation and understanding implications.
📊

Pathogenic Mutation Detected

Confirms diagnosis of UCP2-related hyperinsulinism. Guides treatment and genetic counseling for families.

📊

Likely Pathogenic Variant

Strong evidence for causality. Clinical correlation and family studies recommended.

📊

Variant of Uncertain Significance (VUS)

Further testing or functional studies may be needed for clarification.

📊

Likely Benign or Benign

Unlikely to cause hyperinsulinism. Consider other diagnostic avenues.

⚠️ When to Consult a Doctor:

If you or your child experiences symptoms of hypoglycemia, seizures, or has a family history of hyperinsulinism, consult a healthcare provider immediately for evaluation and possible genetic testing.

Limitations

  • May not detect all types of genetic variations
  • Results require clinical correlation with patient history
  • Does not rule out other genetic or metabolic causes of hyperinsulinism

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection at the puncture site
  • No significant risks associated with FTA card collection

Interfering Factors

  • Degraded DNA samples
  • Contamination during sample processing
  • Technical errors in NGS sequencing

Compare With Similar Tests

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ComparisonUCP2 Gene Hyperinsulinism, UCP2 related NGS Genetic Test

Frequently Asked Questions

What is UCP2 gene hyperinsulinism?
UCP2 gene hyperinsulinism is a rare genetic disorder caused by mutations in the UCP2 gene, leading to overproduction of insulin and low blood sugar levels.
What are the common symptoms of UCP2 gene hyperinsulinism?
Symptoms include hypoglycemia, seizures, irritability, lethargy, poor feeding, and loss of consciousness, often in infants and children.
How is UCP2 gene hyperinsulinism diagnosed?
Diagnosis involves blood glucose monitoring, insulin level testing, genetic testing for UCP2 mutations, and sometimes imaging tests like pancreatic evaluations.
What is NGS genetic testing?
NGS (Next-Generation Sequencing) is an advanced technology that sequences DNA to accurately identify genetic mutations, such as those in the UCP2 gene.
What is the cost of the UCP2 gene hyperinsulinism NGS genetic 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 for this test?
Yes, DNA Labs India offers free home sample collection for the UCP2 gene hyperinsulinism NGS genetic test in various cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after the sample is received at the laboratory.
Is fasting required for the UCP2 gene hyperinsulinism genetic test?
No, fasting is not required as this is a genetic test based on DNA analysis from blood or FTA card samples.
What should I do if the test result is positive?
A positive result indicates a genetic mutation; consult a healthcare provider or genetic counselor for treatment options and family planning advice.
Can this test be performed on infants?
Yes, the test can be performed on individuals of all ages, including infants, using blood samples or FTA cards.
Is genetic counseling provided with the test?
Yes, DNA Labs India includes genetic counseling as part of the test to help interpret results and draw family pedigree charts.
How accurate is the NGS genetic test for UCP2 hyperinsulinism?
NGS genetic testing is highly accurate in identifying mutations in the UCP2 gene, but results should be correlated with clinical findings by a healthcare professional.
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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Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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