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

Canada

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: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel - requisition

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