Disorders


 

Caffey Disease


Synonym(s): Infantile Cortical Hyperostosis

 

GeneReviewOMIM

GeneLocusProtein
COL1A117q21.33Collagen alpha-1(I) chain

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
  
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of select exons
 
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Targeted mutation analysis
 
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• Sequence analysis of select exons
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of the entire coding region
 
University of Washington Medical Center, Collagen Diagnostic Laboratory - Seattle, WA, 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.

Loading...