Chronic Granulomatous Disease (CGD): CYBB (Known Mutation)

Use

This test is intended for individuals with a documented CYBB mutation in a blood-relative (i.e., when the mutation is known and can be documented by the ordering physician), allowing targeted confirmation of the familial mutation. It is used for confirming diagnosis and for testing other family members for the specific mutation identified in the index case. ([ncbi.nlm.nih.gov](https://www.ncbi.nlm.nih.gov/gtr/tests/531343?utm_source=openai))