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Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel

Alternate test name

Hemophagocytic lympohistiocytosis (HLH) and Macrophage Activation Syndrome (MAS)

Gene name / Alternate gene name
  • AP3B1
  • BLOC1S6
  • CD27
  • ITK
  • LYST
  • NLRC4
  • PRF1
  • CD70
  • RAB27A
  • SH2D1A
  • SLC7A7
  • STX11
  • STXBP2
  • UNC13D
  • XIAP
  • MAGT1
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel by exon targeted microarray.
Expected turn-around time
Prenatal samples/Pregnancy/STAT: 2 weeks Routine: 6 weeks
Specimen type

Blood; please contact the Genome Diagnositcs Laboratory if you want to send gDNA. If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements.

For details about specimen requirements, please refer to: Specimen Types & Requirements (PDF).

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Blood-Room Temperature. Please contact the Genome Diagnostics Laboratory if you want to send gDNA.

If sample shipment  >48 hours, ship on ice.

Special requirements

Special Instructions for Genome Diagnostics Samples

Please ship us the blood sample within 48 hours of collection.  

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and clinical significance

Hemophagocytic Lymphohistiocytosis (HLH) is a rare, life threatening disease characterized by immune over-stimulation and a hyper-inflammatory response resulting in cytokine storm and multi-organ failure. There are two types of HLH, primary and secondary. Primary HLH is caused by genetic mutations affecting lymphocytes and Natural Killer cells. HLH is genetically heterogeneous. Diagnostic criteria for HLH is based on the recommendations of the Histiocyte Society include having at least five out of the following eight symptoms: Fever, splenomegaly, cytopenias, hypertriglyceridemia or hypofibrinogenemia, hemophagocytosis, low natural killer cell function, hyperferritinemia and high levels of soluble IL-2r. Macrophage activation syndrome (MAS) is a form of HLH associated with juvenile idiopathic arthritis (JIA) and other rheumatologic conditions. MAS is characterized by, but not limited to, high fevers, hepatosplenomegaly, lymphadenopathy and hematological anomalies.

See related information sheets:

Disease condition
  • 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
  • Lymphoproliferative syndrome 3
  • Congenital disorder of glycosylation, type Icc
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
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