Cystic Fibrosis-IRT (Neonatal Screen)

This test measures Immunoreactive Trypsinogen (IRT) levels to detect potential early signs of cystic fibrosis in newborns. Elevated IRT levels may indicate a higher risk of cystic fibrosis, a condition affecting breathing and digestion.

This test is done to:

• Identify newborns at risk of cystic fibrosis.
• Allow early intervention and treatment.
• Offer genetic counselling to families.
• Prevent complications associated with cystic fibrosis.

Doctors recommend this test:

• For all newborn babies.
• If there's a family history of cystic fibrosis.
• If symptoms like persistent coughing or poor weight gain are present in the baby.
• To assess the effectiveness of treatments for cystic fibrosis.

Abnormal results may suggest a higher likelihood of cystic fibrosis. Further genetic tests may be required for confirmation. Abnormal results do not mean certain diagnosis; consult your doctor for interpretation.

During this test:

• A few drops of blood are taken from the baby's heel.
• The blood sample is collected on a special filter paper.
• The process is quick and usually causes minimal discomfort to the baby.

To prepare for the test:

• No specific preparation is needed for the baby.
• Ensure your baby's heel is warm before the blood sample is taken.
• Clean the baby's foot before sample collection, as per healthcare provider guidance.
• Follow any specific instructions provided by your doctor.

Other tests alongside include:

• Genetic testing to confirm cystic fibrosis diagnosis.
• Sweat chloride test to measure salt levels in sweat, often elevated in cystic fibrosis patients.

Newborn Immunoreactive Trypsinogen test or CFTR gene screening

Cystic Fibrosis is a genetic condition that affects the lungs and digestive system, leading to breathing difficulties, recurrent lung infections, poor growth, and malabsorption of nutrients. It results from mutations in the CFTR gene, causing thick mucus production in various organs.