Incontinentia Pigmenti — Full Gene Sequencing and Common Deletion (IKBKG/NEMO)
Use
This test provides comprehensive sequencing of the IKBKG (NEMO) gene to identify point mutations and common deletions or duplications associated with Incontinentia Pigmenti (IP). It supports diagnosis confirmation in affected patients and carrier detection in families, enabling early identification and informed clinical management.
Special Instructions
Not provided.
Limitations
This assay covers full gene sequencing and known recurrent deletions/duplications in IKBKG (NEMO), but may not detect deep intronic variants outside of targeted deletion/duplication regions or structural rearrangements beyond common del/dup events. Negative results should be interpreted in the context of clinical presentation and may warrant additional testing (e.g., reflex or complementary assays).
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
As per GeneDx Rare Disorders Test Requisition Form instructions for test code 553.
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