X-linked Lymphoproliferative Disease (XLP): SH2D1A (Known Mutation)

Use

This test is used when a specific known mutation in the SH2D1A gene — causative of X-linked lymphoproliferative disease (XLP) — has already been identified and documented by the ordering physician. It enables confirmation of that mutation in additional family members (e.g., for carrier or family member testing), streamlining genetic counseling and clinical decision‑making.