What is the role of genetic testing in the workup of pediatric hemolytic uremic syndrome (HUS)?

Updated: Nov 12, 2018
  • Author: Robert S Gillespie, MD, MPH; Chief Editor: Craig B Langman, MD  more...
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Answer

Genetic testing for complement factor mutations is available from a limited number of laboratories, in some cases only on a research basis. Consult with an expert in this area before ordering such tests.

Genetic tests may take weeks or months to perform, so they are not useful in the immediate management of a patient with hemolytic-uremic syndrome, and acute treatment decisions should not be delayed while awaiting results. Results may be helpful in determining long-term prognosis (eg, the presence of factor H mutations portends a very high risk of recurrence). Tests done on a fee basis may be very expensive. Tests done on a research basis require informed consent. Check with the facility regarding applicable policies for research testing.

Laboratories offering specialized genetic, ADAMTS13, and/or complement testing are listed below. This is not intended to be an exclusive listing; other laboratories may also offer these services. For additional details, contact the laboratories; information on some laboratories is also summarized in the guidelines from Ariceta et al, which is cited in the references. [6]

Service d’Immunologie Biologique

Hospital Europeén George Pompidou

20–40 rue Leblanc

75908 Paris cedex 15

France

veronique.fremeaux-bacchi@egp.aphp.fr

The Northern Genetics Service

Institute of Human Genetics

Newcastle upon Tyne Hospitals

NHS Foundation Trust

International Centre for Life

Newcastle upon Tyne NE1 3BZ

UK

lisa.strain@nuth.nhs.uk

Mario Negri Institute for Pharmacological Research

Via Gavazzeni 11

24125 Bergamo

Italy

gremuzzi@marionegri.it

noris@marionegri.it

Department of Biological Infection

Leibniz Institute for Natural Product Research and Infection Biology

Hans Knoell Institute for Natural Product Research

Beutenbergstr. 11a

07745 Jena

Germany

peter.zipfel@hki-jena.de

Department of Pediatrics

BMC C14

Lund University,

Klinikgatan 28, 22184 Lund, Sweden

diana.karpman@med.lu.se

Laboratory for Paediatrics and Neurology

Radboud University Nijmegen Medical Center

Postbus 9101

6500 HB Nijmegen

Geert Grooteplein 10 6525 GA Nijmegen

The Netherlands

B.vandenHeuvel@cukz.umcn.nl

Immunology Unit and Research Unit

Hospital Universitario La Paz

Paseo de la Castellana 261

28046 Madrid

Spain

srdecordoba@cib.csic.es

psanchez.hulp@salud.madrid.org

Laboratory of Complement Genetics

Centro de Investigaciones Biológicas

Ramiro de Maeztu 9

28040 Madrid

Spain.

srdecordoba@cib.csic.es

psanchez.hulp@salud.madrid.org

U770 INSERM

Hopital de Bicetre

80 rue du General Leclerc

94276 Le Kremlin-Bicetre cedex

France

agnes.veyradier@abc.aphp.fr

Haemostasis Research Unit

Haematology Department

University College London

1st floor

51 Chenies Mews

London WC1E 6HX

UK

i.Mackie@ucl.ac.uk

g.purdy@ucl.ac.uk

University Medical Center Hamburg-Eppendorf

Department of Pediatric Hematology and Oncology

Molecular Genetics Laboratory

Martinistrasse 52

20246 Hamburg

Germany

schneppenheim@uke.de

f.oyen@uke.de

Molecular Otolaryngology Research Laboratories

University of Iowa

Telephone: 319-335-7997

Address: 5270 CBRB Otolaryngology—Head & Neck Surgery

University of Iowa

Iowa City, Iowa 52242

E-mail: carla-nishimura@uiowa.edu

E-mail:nic-meyer@uiowa.edu


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