Disorders


 

SH2D1A-Related Lymphoproliferative Disease, X-Linked


Synonym(s): Duncan Disease, Duncan Syndrome, Duncan's Disease, Duncan's Syndrome, Purtilo Syndrome, Purtilo's Disease, Purtilo's Syndrome, XLP, XLP1, XLPD

 

OMIM

GeneLocusProtein
SH2D1AXq25SH2 domain-containing protein 1A

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Sequence analysis of the entire coding region
 
Center for Human Genetics, Inc - Cambridge, MA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Centre for Cardiovascular Surgery and Transplantation, Molecular Genetics Laboratory - Brno, Czech Republic• Sequence analysis of the entire coding region
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA• Sequence analysis of the entire coding region
• Protein analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden• Sequence analysis of the entire coding region
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
Seattle Children's Research Institute, Immunology Diagnostics Laboratory - Seattle, WA, USA• Sequence analysis of the entire coding region
• Protein analysis
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands• Sequence analysis of the entire coding region

* 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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