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  • Hemophagocytic Lymphohistiocytosis

Published on December 09, 2019

Hemophagocytic Lymphohistiocytosis(HLH)

Tube Type

Test ID LAB6746
EPIC Order HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS (HLH)
CPT Code(s) 81479
Group/Individual Test Individual
Laboratory Molecular Immunology Laboratory
Tube Station 30 Routine: 888 STAT
Specimen Routine: blood/lavender top; 3.0 mL minimum volume
Availability Routine: Monday-Friday
Turnaround Time 14 days
Reference Range Interpretation
Comments

Genes Targeted:

AP3B1 BLOC156 CD27
ITK LYST MAGT1
PRF1 RAB27A SH2D1A
SLC7A7 STX11 STXBP2
UNC13D XIAP

The HLH Sequencing assay is performed using capture probes targeting 14 genes with mutations covering 99% of familial HLH Cases [1,2].  The assay fails to capture the 5' UTR region of STXBP2 thus mutations within this region cannot be assessed.

Captured genes are sequenced using Illumina technology.  The assay focuses on exonic regions harboring known disease-causing mutations.  Detection of insertions or deletions of greater than 2 basepairs has not been assessed.

This test was developed and its performance characteristics validated by the Molecular Immunology Laboratory.  It has not been cleared nor approved by the FDA.

References:

[1]  S. Chandrakasan, A.H. Filipovich, Hemophagocytic lymphohistiocytosis: advances in pathophysiology, diagnosis, and treatment, J Pediatr. 163 (2013) 1253-1259 doi:10.1016/j.peds.2013.06.053

[2]  K. Zhang, A.H. Filipovich, R.A. Marsh, J. Villanueva, Hemophagocytic Lymphohistocytosis, Familial, University of Washington, Seattle, 1993.
http://www.ncbi.nlm.nih.gov/pubmed/20301617/

Please call lab (984-974-4057) with questions.

Reviewed by Christopher Parker on December 09, 2019

Note: Reference ranges provided on this web site are for guidance only, and may not reflect the most recent changes. Refer to laboratory reports for current reference data.

UNC Hospitals
McLendon Clinical Laboratories
101 Manning Drive
Chapel Hill, NC 27514

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