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HelpCatalog ID HLH HLH Genetic Panel
Additional Codes
CPOE: Ref Specimen Misc; specify HLH Genetic Panel
Specimen
EDTA Lavender top tube, collect 3.0 mL (1.0 mL minimum) blood
Whole blood, 3.0 mL, room temperature
***Allogenic bone marrow transplant patients will require both a blood sample and a buccal swab to assess both germline and donor marrow genetics.***
Rejection Criteria
Serum, plasma, other anticoagulants, insufficient specimen, unlabelled specimen
Interpretative Information
This test sequences the exons plus 5bp of the flanking introns of ADA, AP3B1, BLOC1S6, CD27, CD70, CORO1A, CTPS1, CYBB, FADD, FAS, FASLG, GATA2, IL2RA, IL2RG, ITK, LAMP1, LIPA, LYST, MAGT1, MEFV, MVK, NLRC4, NLRP3, PNP, PRF1, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, TBXAS1, TNFRSF1A, UNC13D, WAS, XIAP, and XLA. Additionally, several known mutations that reside in deep intronic or promoter elements are also included. Sanger sequencing may be used to confirm variants as needed. This test also includes a PCR-based assay to detect the recurrent pathogenic UNC13D inversion. This test will not detect variants located outside of the targeted DNA regions. This test is not optimized to detect chimerism or somatic mosaicism.
Performing Lab
Machaon Diagnostics
Turn-Around-Time
<48 hours from specimen receipt at Machaon Diagnostics
Abnormal results will be messaged to ordering provider as soon as results are available.
Reference Values
Negative