Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel

Test Information

Title
Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel
Lab
Category
Immunity
Test Name (CMS Title)
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
Samples Accepted
Blood, DNA, DNA (Not Accepted for MLPA)
Indications
Diagnosis
Test Methodology
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: November 14, 2025

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