Disorders

Caffey Disease

Synonym(s): Infantile Cortical Hyperostosis

Gene	Locus	Protein
COL1A1	17q21.33	Collagen alpha-1(I) chain

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Targeted mutation analysis
Connective Tissue Gene Tests - Allentown, PA, USA	• Sequence analysis of select exons
diagenos - Osnabrueck, Germany
GGA - Galil Genetic Analysis - Kazerin, Israel
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
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.