Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel

Test Information

Title: Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel
Lab: The Hospital for Sick Children
Category: Immunity
Sub Category: Hemophagocytic Lymphohistiocytosis (HLH)
Gene/Platform/Region List: AP3B1, BLOC1S6, CD27, ITK, LYST, NLRC4, PRF1, CD70, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, XIAP, MAGT1
Test type: Gene Panel
Samples Accepted: Blood , DNA , DNA (Not Accepted for MLPA)
Indications: Diagnosis , Prenatal
Test Methodology: CNV , Sequencing
Methodology Notes: Exome + targeted microarray
Disease/Condition: Hemophagocytic lympohistiocytosis (HLH) and Macrophage Activation Syndrome (MAS), Hemophagocytic Lymphohistiocytosis (HLH), Macrophage activation syndrome MAS, X- linked lymphoproliferative (XLP) syndromes 1 and 2, Hermansky- Pudlak syndrome types 2 and 9, Chediak-Higashi syndrome, Griscelli syndrome Type 2, Macrophage activation syndrome

Last Updated: June 23, 2025

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