Casandra
Casandra Test Code LC00603Version 1 (DRAFT)
Performing Lab
X-linked Agammaglobulinemia (XLA): BTK (Known Mutation)
Clinical Use
Order TestUse
Used when a familial BTK mutation is already identified; allows targeted confirmation of that known mutation in family members, supporting rapid carrier detection and confirmation of XLA diagnosis.
Special Instructions
This option is available when the mutation is known and can be documented by the ordering physician. If the mutation cannot be documented, please order test 252453. Orders must include attestation of informed consent; in family testing, submit the index case report if not performed at LabCorp.
Limitations
Not provided.
Test Details
Methodology
NGS
Biomarkers
Sequence analysis of the BTK gene focused on the known familial mutation site plus flanking regions.
BTK
GeneSNV/Indel • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
LOINC Codes
Order Codes
- 35295-5
Result Codes
- 35295-5
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Not provided.