Cystic Fibrosis Newborn Screen Test
Short Name: CF NBS Test
Also known as: CF Newborn Screening Test, CFTR Newborn Screen, Cystic Fibrosis Carrier Screening Newborn, Immunoreactive Trypsinogen Test, IRT-DNA Newborn Screen
Cystic Fibrosis Newborn Screen Test test available at DNA Labs India for ₹644. Uses Fluoroimmunoassay on Heel prick blood on filter paper samples. Results in Reports are typically available the next day after sample receipt at the laboratory. Samples received Monday through Friday by 9:00 AM are processed the same day with reports available the following day. Weekend or holiday samples may have slightly extended turnaround times.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The Cystic Fibrosis Newborn Screen Test is performed to detect elevated levels of Immunoreactive Trypsinogen (IRT) in newborn blood, which serves as an early biomarker for Cystic Fibrosis. The purpose of this test is to identify infants who may have CF before symptoms develop, enabling timely confirmatory testing and early intervention. This screening helps prevent serious complications such as progressive lung disease, pancreatic insufficiency, failure to thrive, and life-threatening infections by allowing healthcare teams to begin proactive management from the newborn period.
- Test Code
- 463
- CPT Code
- 83993
- ICD Code
- E84.0
- Price
- ₹644
- Sample Type
- Heel prick blood on filter paper
- Result Time
- Reports are typically available the next day after sample receipt at the laboratory. Samples received Monday through Friday by 9:00 AM are processed the same day with reports available the following day. Weekend or holiday samples may have slightly extended turnaround times.
- Fasting Required
- No
- Method
- Fluoroimmunoassay
Sample Collection
Ensure the infant is at least 48 to 72 hours old before sample collection. Provide complete clinical details and drug history of the mother and infant. Ensure the filter paper card (Guthrie card) is available and properly labelled.
Method: Heel prick
Laboratory Analysis
A small puncture is made on the heel of the newborn using a sterile lancet. One drop of blood is placed on each of the three designated spots on the filter paper card. Ensure the blood saturates the filter paper completely without touching the spots with fingers.
Report Delivery
Allow the blood spots to air dry completely at room temperature away from direct sunlight or heat sources. Once dried, place the filter paper card in the provided sample pouch. Ship the sample refrigerated or frozen as per the kit instructions. Ensure clinical details and drug history form accompanies the sample.
Timeline: Reports are typically available the next day after sample receipt at the laboratory. Samples received Monday through Friday by 9:00 AM are processed the same day with reports available the following day. Weekend or holiday samples may have slightly extended turnaround times.
Patient Instructions
About This Test
Who Should Get This Test
The Cystic Fibrosis Newborn Screen Test is performed to detect elevated levels of Immunoreactive Trypsinogen (IRT) in newborn blood, which serves as an early biomarker for Cystic Fibrosis. The purpose of this test is to identify infants who may have CF before symptoms develop, enabling timely confirmatory testing and early intervention. This screening helps prevent serious complications such as progressive lung disease, pancreatic insufficiency, failure to thrive, and life-threatening infections by allowing healthcare teams to begin proactive management from the newborn period.
How to Prepare
- Collect sample between 48 to 72 hours after birth for optimal accuracy
- Use a sterile heel prick lancet for blood collection
- Apply 1 drop of blood to each of the 3 spots on the filter paper card
- Ensure blood fully saturates each spot without over-saturating
- Air dry the filter paper card at room temperature, away from heat and sunlight
- Ship the dried sample refrigerated or frozen as per instructions
- Include completed clinical details and drug history form with the sample
- Label the filter paper card clearly with the infant's name, date of birth, and collection date
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Newborn screening for Cystic Fibrosis is a critical step in early identification of affected infants. When detected early through heel-prick blood screening, treatment interventions including pancreatic enzyme replacement, airway clearance therapies, and nutritional support can begin promptly, significantly improving long-term outcomes. I strongly recommend that all newborns undergo this screening, particularly when there is a family history of CF or known carrier status in either parent. Early diagnosis allows for proactive management before symptoms develop, reducing the risk of irreversible lung damage and malnutrition."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected before 48 hours of birth
- Insufficient blood on filter paper spots
- Contaminated or clotted blood spots
- Filter paper card not properly dried before shipping
- Missing clinical details or drug history information
- Sample received beyond stability period
- Damaged or wet filter paper card
Understanding Your Results
Normal (Negative Screen)
IRT levels are within the normal reference range. The infant is unlikely to have Cystic Fibrosis based on this screening. No immediate follow-up is required unless clinical symptoms develop.
Elevated IRT (Positive Screen)
IRT levels are above the cutoff threshold. This is a screening positive result and requires confirmatory testing including a sweat chloride test and/or CFTR genetic mutation analysis. A positive screen does not mean the infant has CF; it indicates the need for further evaluation.
Borderline / Equivocal
IRT levels are borderline and may require repeat testing or additional genetic analysis. The healthcare provider will determine the appropriate next steps based on clinical context and family history.
Consult a pediatrician or genetic specialist immediately if the newborn screening result is positive or equivocal for Cystic Fibrosis. Additionally, seek medical consultation if your newborn exhibits symptoms such as persistent coughing, wheezing, frequent lung infections, poor weight gain despite adequate feeding, greasy or foul-smelling stools, salty-tasting skin, or meconium ileus at birth. Early medical intervention is critical for optimal outcomes in CF management.
Limitations
- ⚠This is a screening test and NOT a confirmatory diagnostic test for Cystic Fibrosis
- ⚠Elevated IRT levels require follow-up confirmatory testing such as a sweat chloride test or CFTR genetic mutation analysis
- ⚠A normal IRT result does not completely rule out CF, particularly in infants with rare CFTR mutations
- ⚠The test has a small false-positive rate, especially in premature or low-birth-weight infants
- ⚠Timing of sample collection is critical; testing before 48 hours of life may yield unreliable results
- ⚠The test does not identify CF carriers; it only identifies infants at risk for having CF
Risks & Considerations
- ●Minimal: Mild discomfort during heel prick
- ●Minimal: Small risk of bruising at the collection site
- ●Minimal: Very small risk of infection at the puncture site
- ●Screening risk: Possibility of false-positive results leading to parental anxiety and need for confirmatory testing
- ●Screening risk: Small possibility of false-negative results
Interfering Factors
- ●Premature birth may affect IRT levels and lead to false-positive results
- ●Stress or illness in the newborn at the time of collection can transiently elevate IRT
- ●Improper sample collection technique or insufficient blood on the filter paper
- ●Delayed sample transport or improper storage conditions
- ●Recent blood transfusions in the newborn
- ●Maternal factors and certain medications taken during pregnancy
Compare With Similar Tests
| Test | Cystic Fibrosis Newborn Screen Test | Sweat Chloride Test | CFTR Genetic Mutation Panel | Fecal Elastase Test |
|---|---|---|---|---|
| Comparison | Cystic Fibrosis Newborn Screen Test |
Frequently Asked Questions
What is the Cystic Fibrosis Newborn Screen Test?
When should the Cystic Fibrosis Newborn Screen Test be performed?
How is the blood sample collected for this test?
What does a positive screening result mean?
Can the Cystic Fibrosis Newborn Screen Test give a false result?
What is the cost of the Cystic Fibrosis Newborn Screen Test at DNA Labs India?
Is free home sample collection available for this test?
Is fasting required before the Cystic Fibrosis Newborn Screen Test?
Is Cystic Fibrosis common in India?
What happens if the confirmatory test is also positive?
Can both parents be carriers of Cystic Fibrosis without knowing?
What sample storage and shipping conditions are required for this test?
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