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.
- HLH panel
Specimens are accepted Monday through Friday, before 530 pm on Friday. (Lab does accept Saturday delivery) Collect specimen in a lavender top tube. Send intact whole blood at room temperature. Do not refrigerate or freeze.
Specimen must be received Monday - Friday before 530 pm. Lab does accept Saturday delivery
Test sent to Cincinnati Children’s Hospital.