Disorders


 

Growth Hormone Insensitivity with Immunodeficiency


 

OMIM

GeneLocusProtein
STAT5B17q11.2Signal transducer and activator of transcription 5B

Laboratory Test Method Prenatal Carrier *
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
Hpital Trousseau - Assistance Publique des Hpitaux de Paris, U.F. de Gntique Molculaire - Paris, France• Sequence analysis of the entire coding region
 
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Seattle Children's Research Institute, Immunology Diagnostics Laboratory - Seattle, WA, USA• Sequence analysis of the entire coding region
• Protein expression

* 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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