Casandra
Casandra Test Code LC89708Version 1 (DRAFT)
Performing Lab
Hypohidrotic Ectodermal Dysplasia With Immune Deficiency (HED‑ID): IKBKG (NEMO) (Known Mutation)
Clinical Use
Order TestUse
This genetic test option is intended for confirming a previously identified pathogenic variant in the IKBKG (also known as NEMO) gene associated with Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED‑ID). It is used when the specific mutation is already known and documented by the ordering physician, enabling targeted familial testing for the presence of that mutation.
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
NGS
Biomarkers
IKBKG
GeneSequencing
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
LOINC Codes
Order Codes
- 57753-6 - IKBKG gene Mut Anl Bld/T
Result Codes
- 57753-6 - IKBKG gene Mut Anl Bld/T
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
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