Genetic Test Details
Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel
Test Information
- Titre
- Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel
- Catégorie
- 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
- DNA , Blood , DNA (Not Accepted for MLPA)
- Indications
- Diagnosis , Prenatal
- Test Methodology
- Sequencing , CNV
- 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
Dernière Mise à Jour: 18 juin 2025