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Paediatric Laboratory Medicine

Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel


See related pages for information sheets on Autoinflammatory Disease

Clinical Significance

See related pages for information sheets on Autoinflammatory Disease

Test Name

Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel

Alternate Name/ Synonym

Autoinflammatory Disease Panel: Hemophagocytic lymphohistiocytosis (HLH) and Macrophage Activation Syndrome (MAS)

Gene Name

  • AP3B1
  • BLOC1S6
  • CD27
  • ITK
  • LYST
  • NLRC4
  • PRF1
  • RAB27A
  • SH2D1A
  • SLC7A7
  • STX11
  • STXBP2
  • UNC13D
  • XIAP

Alternate Gene Name

ADTB3A, HPS2, PA, PLDN, HPS9, TNFRSF7, S152, Tp55, EMT, PSCTK2, LYK, CHS1, CHS, CARD12, CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN, PFP, P1, HPLH2, RAB27, RAM, GS2, HsT18676, IMD5, LYP, XLP, MTCP1, DSHP, XLPD, EBVS, SAP, LPI, y+LAT-1, UNC18B, Hunc18b, Munc13-4, API3, BIRC4, hILP

Test Code

RFS-Panel 2


Molecular Genetics


Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel. Please see Autoinflammatory Disease: Deletion & Duplication analysis.

External Proficiency Testing


Turn Around Time

3-4 weeks (Prenatal), 4-6 weeks (Pregnant or Urgent), 8-10 weeks (Routine)


  • 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

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).

Minimum Specimen Requirements

5-10 mL EDTA or ACD
0.5 mL EDTA (neonate); minimum 10 ug of DNA in 100 uL low TE (pH8.0)


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.  


Provided with report.