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This panel detects most known genetic causes of HLH: familial hemophagocytic
lymphohistiocytosis (PRF1, UNC13-D, STX11, STXBP2), X- linked lymphoproliferative (XLP) syndromes 1 and 2 (SH2D1A and XIAP), ITK deficiency (ITK), HermanskyPudlak syndrome types 2 and 9 (AP3B1 and BLOC1S6), Chediak-Higashi syndrome (LYST), CD27 deficiency (CD27), XMEN syndrome and lysinuric protein intolerance (SLC7A7). Mutations in MAGT1 have not been associated with HLH to date, but it is included in this panel to gain knowledge about its association. All inherited as autosomal recessive conditions except for XMEN syndrome and XLP1 and 2, which are inherited as X-linked disorders.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.