9008

GTD Indications Diagnosis Prenatal GTD Samples Accepted Blood DNA DNA (Not Accepted for MLPA) GTD Test Methodology CNV Sequencing GTD Methodology Notes Exome + targeted microarray GTD Notes DNA not accepted for MLPA Generic Test name (cms title) Hemophagocytic Lymphohistiocytosis (HLH) GTD Test type Gene Panel GTD Location The Hospital for Sick Children GTD Gene/Platform/Region List AP3B1, BLOC1S6, CD27, ITK, LYST, NLRC4, PRF1, CD70, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, XIAP, MAGT1 GTD Category Immunity GTD 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