Casandra
Casandra Test Code LC38439Version 1 (DRAFT)
Performing Lab
Chronic Granulomatous Disease (CGD): CYBB (Known Mutation)
Clinical Use
Order TestUse
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.β([ncbi.nlm.nih.gov](https://www.ncbi.nlm.nih.gov/gtr/tests/531343?utm_source=openai))
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
NGS
Biomarkers
CYBB
GeneSNV/Indel
Mutation β’ Categorical (e.g., Positive / Negative / Indeterminate)
LOINC Codes
Order Codes
- 48734-8 - CYBB gene Mut Anl Bld/T
Result Codes
- 48734-8 - CYBB gene Mut Anl Bld/T
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
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