Cystic fibrosis carrier

This code identifies an individual who carries one copy of a mutated gene associated with cystic fibrosis (CF) but does not exhibit the disease themselves. These individuals are typically asymptomatic and do not have the clinical manifestations of CF. They have a 50% chance of passing the mutated gene to each of their children.

Use this code for patients identified as carriers through genetic testing, often as part of preconception screening, prenatal screening, or family history investigations. It is appropriate when the patient is confirmed to carry the CF gene mutation but does not have a diagnosis of active cystic fibrosis.

• Do not use this code for patients diagnosed with active cystic fibrosis; refer to codes in the E84 category for that condition.
• This code is typically a secondary diagnosis, supporting the reason for genetic counseling or testing.
• Ensure documentation clearly states the patient is a carrier and not affected by the disease.