Gene Sequencing, aHUS

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Specimen Requirements


Whole blood; acceptable alternate: cheek swab (buccal swab)


3 mL

Minimum Volume

1 mL


Lavender-top (EDTA) tube


Invert tube 4 times to ensure adequate mixing.

Storage Instructions

Room temperature

Stability Requirements



Room temperature

1 month

Causes for Rejection

Sample contamination

Test Details


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 C5 p.Arg885. The sequences have been compared to the reference Human genome (Hg18) sequence.


Next Generation Sequencing (NGS)


Bu F, Borsa N, Gianluigi A, Smith RJ. Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects. Clin Dev Immunol. 2012; 2012:370426.23251215
Kavanagh D, Goodship TH. Atypical hemolytic syndrome, genetic basis, and clinical manifestations. Hematology Am Soc Hematol Educ Program. 2011;2011:15-20.22160007

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