Genetic Test Details

Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel

Test Information

Title
Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel
Lab
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
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: November 26, 2025

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