Disorders


 

Shwachman-Diamond Syndrome


Synonym(s): Pancreatic Insufficiency and Bone Marrow Dysfunction, Shwachman Syndrome, Shwachman-Bodian-Diamond Syndrome

 

GeneReviewOMIM

GeneLocusProtein
SBDS7q11.22Ribosome maturation protein SBDS

Laboratory Test Method Prenatal Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands  
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA  
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA  
Centogene AG, Rare Disease Company - Rostock, Germany  
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of select exons
  
GeneDx - Gaithersburg, MD, USA  
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain  
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain• Targeted mutation analysis
  
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland• Sequence analysis of select exons
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Targeted mutation analysis
  
University Hospital of Verona, Laboratory of Molecular Pathology - Verona, Italy• Targeted mutation analysis
  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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