Gene Sequencing, aHUS

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Specimen Requirements


Specimen

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


Volume

3 mL


Minimum Volume

1 mL


Container

Lavender-top (EDTA) tube


Collection

Invert tube 4 times to ensure adequate mixing.


Storage Instructions

Room temperature


Stability Requirements

Temperature

Period

Room temperature

1 month


Causes for Rejection

Sample contamination


Test Details


Use

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.


Methodology

Next Generation Sequencing (NGS)


References

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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