Disorders


 

Schinzel-Giedion Midface Retraction Syndrome


 

OMIM

GeneLocusProtein
SETBP118q21.1SET-binding protein

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA• 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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