Atypical hemolytic uremic syndrome (aHUS) [17 genes]

Atypical hemolytic-uremic syndrome (aHUS) is a disease characterized by a triad of manifestations: microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. This disease is a consequence of alterations in the
regulation of the activation of the complement system on the cell surface, leading to endothelial damage mediated by C5 and the terminal complement pathway. Therefore, events that activate the complement system lead to its
continuous, unrestricted activity, causing generalized endothelial cell injury. Pathogenic mutations include those that result in loss of function of a complement regulatory gene (CFH, CFI, CD46, or THBD) or gain of function of an effector gene (CFB or C3), as well as pathogenic mutations in more than two genes associated with the same pathway. Apart
from studying genes associated with the pathways of the complement system, differential diagnosis of overlapping disease phenotypes must also be included.

  • Hemolytic anemia, thrombocytopenia, and kidney failure due to thrombotic microangiopathy
  • Onset: childhood or adulthood

Prevalence: 1-9/100,000

  • Diagnosis and genetic counseling
  • Plasma therapy
  • Eculizumab

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Atypical hemolytic uremic syndrome (aHUS)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202008468

Atypical hemolytic uremic syndrome (aHUS): View panel
  • ADAMTS13
  • C3
  • CD46
  • CFB
  • CFH
  • CFHR1
  • CFHR2
  • CFHR3
  • CFHR4
  • CFHR5
  • CFI
  • CFP
  • DGKE
  • G6PD
  • MMACHC
  • THBD
  • VTN

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Sansbury FH, Cordell HJ, Bingham C, Bromilow G, Nicholls A, Powell R, Shields B, Smyth L, Warwicker P, Strain L, Wilson V, Goodship JA, Goodship TH, Turnpenny PD. Factors determining penetrance in familial atypical haemolytic uraemic syndrome. J Med Genet. 2014 Nov;51(11):756-64. doi: 10.1136/jmedgenet-2014-102498. Epub 2014 Sep 26. PubMed PMID: 25261570.
  2. Goicoechea de Jorge E, López Lera A, Bayarri-Olmos R, Yebenes H, Lopez-Trascasa M, Rodríguez de Córdoba S. Common and rare genetic variants of complement components in human disease. Mol Immunol. 2018 Oct;102:42-57. doi: 10.1016/j.molimm.2018.06.011. Epub 2018 Jun 18. Review. PubMed PMID: 29914697.
  3. Noris M, Bresin E, Mele C, Remuzzi G. Genetic Atypical Hemolytic-Uremic Syndrome. 2007 Nov 16 [updated 2016 Jun 9]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. PubMed PMID: 20301541.