Pathology/Lab Coding Alert

Question: With all the genetic testing options for cancers and germline mutations, is there a way to report the results of the tests without indicating that the patient has the disease?

Tennessee Subscriber

Answer: Yes, ICD-10 provides several options for reporting the results of genetic tests without indicating that the patient has the condition.

For instance, if molecular testing indicates that the patient has a genetic mutation that makes them more likely to develop a certain cancer, you can turn to one of the following codes:

• Z15.01, Genetic susceptibility to malignant neoplasm of breast
• Z15.02, Genetic susceptibility to malignant neoplasm of ovary
• Z15.03, Genetic susceptibility to malignant neoplasm of prostate
• Z15.04, Genetic susceptibility to malignant neoplasm of endometrium
• Z15.09, Genetic susceptibility to other malignant neoplasm

These codes are appropriate to report genetic susceptibility, especially based on test results that confirm an abnormal gene. However, you should also code first any current neoplasm, if present, and report an additional code for personal history or family history of malignant neoplasm.

Carrier: If molecular testing indicates that the patient is a carrier of a specific germline mutation that could be passed on to progeny, you might turn to one of the following codes:

• Z14.01, Asymptomatic hemophilia A carrier
• Z14.02, Symptomatic hemophilia A carrier
• Z14.1, Cystic fibrosis carrier
• Z14.8, Genetic carrier of other disease

On the other hand, if you don’t have documentation that the patient is a carrier, but you do know that a family member has a relevant genetic mutation, you can report that situation using ICD-10 code Z84.81 (Family history of carrier of genetic disease).

For instance, if the clinician documents a family history of thalassemia carrier state to order a genetic test for the condition, an appropriate ICD-10 ordering diagnosis would be Z84.81, along with any relevant condition diagnoses or signs or symptoms of disease.