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GUCY2C Gene Meconium ileus NGS Genetic Test

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GUCY2C Gene Meconium ileus NGS Genetic Test

Short Name: GUCY2C Meconium Ileus Test

Also known as: GUCY2C Gene Test, Meconium Ileus Genetic Test, NGS Test for Meconium Ileus

GUCY2C Gene Meconium ileus 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.

NGS Genetic TestNewborns and Infants🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect pathogenic mutations in the GUCY2C gene associated with meconium ileus, facilitating early diagnosis, treatment planning, and genetic counseling for affected families.

Test Code
2436
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. Ensure patient identification and consent.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist or using FTA card for one-drop blood.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as per guidelines.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No fasting required. Provide clinical history and undergo genetic counseling.
2
During the Test:Sample collection takes a few minutes. NGS analysis performed in the lab.
3
After the Test:Monitor for any discomfort at collection site. Await results in 3-4 weeks.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the GUCY2C gene associated with meconium ileus, facilitating early diagnosis, treatment planning, and genetic counseling for affected families.

How to Prepare

  • Verify patient identity and test order
  • Use sterile equipment for blood draw
  • Label sample correctly with patient details
  • Transport sample at ambient temperature unless specified

Doctor's Notes

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

"Early genetic testing for GUCY2C mutations can guide timely intervention for newborns with meconium ileus, improving outcomes and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood (if applicable)
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood sample stable for 48 hours at 2-8°C
FTA card samples stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling or container

Understanding Your Results

Results indicate the presence or absence of mutations in the GUCY2C gene. Positive results suggest a genetic predisposition to meconium ileus, while negative results may require further testing if clinical suspicion remains.
📊

Positive for pathogenic mutation

Mutation detected, associated with meconium ileus. Recommend genetic counseling and clinical management.

📊

Negative for pathogenic mutation

No mutation detected. Consider other causes and clinical correlation.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms like abdominal distension, vomiting, or failure to pass stool persist, or if genetic test results are positive or uncertain.

Limitations

  • ⚠May not detect all rare mutations or variants of uncertain significance
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●No significant risks from genetic testing itself

Interfering Factors

  • ●Sample contamination during collection
  • ●Degraded DNA due to improper storage
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestGUCY2C Gene Meconium ileus NGS Genetic TestCFTR Gene Mutation TestSweat Chloride Test
ComparisonGUCY2C Gene Meconium ileus NGS Genetic TestFocuses on cystic fibrosis gene, while GUCY2C test targets meconium ileus specifically.Diagnoses cystic fibrosis functionally, whereas GUCY2C test is genetic.

Frequently Asked Questions

What is meconium ileus?
Meconium ileus is a condition in newborns where thick meconium blocks the intestines, often linked to cystic fibrosis.
What role does the GUCY2C gene play?
The GUCY2C gene regulates fluid balance in the intestines; mutations can cause meconium ileus.
How is the NGS genetic test performed?
It uses Next-Generation Sequencing to analyze DNA from blood or FTA card samples for mutations in the GUCY2C gene.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do positive results mean?
Positive results indicate a mutation in the GUCY2C gene, associated with meconium ileus, requiring genetic counseling and management.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers transparent pricing.
What are the symptoms of meconium ileus?
Symptoms include abdominal distension, failure to pass stool, vomiting, loss of appetite, and dehydration.
How accurate is the NGS test?
NGS is highly accurate for detecting known mutations, but may not identify all variants; clinical correlation is advised.
Can this test be done for adults?
This test is primarily for newborns with suspected meconium ileus; adults may require different genetic tests.
What should I do if the test is positive?
Consult a genetic counselor and pediatric specialist for guidance on treatment and family planning.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

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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