Disorders


 

SERPINH1-Related Osteogenesis Imperfecta


 

OMIM

GeneLocusProtein
SERPINH111q13.5Serpin H1

Laboratory Test Method Prenatal Carrier *
Cologne University, Institute of Human Genetics - Cologne, Germany• Sequence analysis of the entire coding region
• Linkage analysis
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• Sequence analysis of the entire coding region
University Hospital Ghent, Connective Tissue Laboratory - Ghent, Belgium• Sequence analysis of the entire coding region
 
University of Washington Medical Center, Collagen Diagnostic Laboratory - Seattle, WA, USA• Sequence analysis of the entire coding region
• Deletion/duplication 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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