Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel
| Test Information | |
|---|---|
| Test Name | Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel |
| Lab (Location) | The Hospital for Sick Children |
| Category | Immunity |
| Subcategory | 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, DNA (Not Accepted for MLPA) |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | Exome + targeted microarray |
| Diseases/Conditions | 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 |
| Notes | DNA not accepted for MLPA |