
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