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HelpCatalog ID aHUS aHUS Genetic Panel
Additional Codes
CPOE: Ref Specimen Misc; specify aHUS Genetic Panel
Specimen
Lavender EDTA tube, collect 3.0 mL (1.0 mL minimum) blood
Whole blood, 3.0 mL, room temperature
***Allogenic bone marrow transplant patient must utilize both a blood specimen & a buccal swab to test both germline and post-transplant genetics.***
Rejection Criteria
Serum, plasma, other anticoagulants, insufficient quantity, unlabelled specimen
Interpretative Information
The exonic regions of 20 genes are sequenced and analyzed as part of this panel, including ADAMTS13, C2, C3, C3AR1, CD46 (MCP), CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, MASP2, MMACHC, THBD, PLG, WT1 and one SNP in C5 (C5 p.Arg885). In addition to picking up both known and novel single nucleotide variants, this test also detects the large deletions in CFHR3-1 and CFHR1-4. Rare, pathogenic CFH fusions are best detected using our CFH MLPA assay. Sanger sequencing is performed to confirm certain variants. 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 by Machaon Diagnostics
Reference Values
Negative