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))
Special Instructions
This option is available only when the mutation is known and documented by the ordering physician. If not, test 252529 (full gene sequencing) should be ordered instead. An attestation of informed consent for genetic testing is required, and the result report of the index case should be submitted if not performed at LabCorp. Other family members are then tested for the specific mutation. ([labcorp.com](https://www.labcorp.com/tests/252733/chronic-granulomatous-disease-cgd-i-cybb-i-known-mutation))
Limitations
Not provided.
Methodology
NGS
Biomarkers
LOINC Codes
- 48734-8
- 48734-8
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided