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Paediatric Laboratory Medicine

Caffey Disease: COL1A1 Recurrent Mutation

Clinical Significance

Caffey Disease is an autosomal dominant disorder characterized by episodes of massive subperiosteal new bone formation, usually involving the diaphysies of long bones, mandible and clavicle. It typically presents before 5 months of age and clinical features resolve spontaneously around 2 years of age. A single pathogenic mutation, c.3040C>T (p.Arg1014Cys) has been found in the COL1A1 gene. Penetrance of the mutation is only ~80%, with an inflammatory event as the pro-posed mechanism to elicit clinical presentation.

Test Name

Caffey Disease: COL1A1 Recurrent Mutation

Alternate Name/ Synonym

  • Infantile cortical hyperostosis

Gene Name

  • COL1A1

Test Code



Molecular Genetics


Targeted analysis of recurrent mutation in exon 41

External Proficiency Testing


Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)


Collagen, type 1, alpha 1


Caffey Disease

Specimen Type

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Special Requirements

Special Instructions for Genome Diagnostics Samples

Approval is not required

CPT Codes


Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Phone: 416-813-7200
Phone: 1-855-381-3212


Interpretation is provided in report

Information Sheet: Caffey Disease