Caffey disease is a dominantly inherited disorder characterized by hyperirritability, inflammation of soft tissues, and subperiosteal new bone formation. It typically appears in early infancy as originally reported in a large Canadian family. The clinical description in recent reported families includes short stature, compression fractures, scoliosis, and genu varus.
The CDL offers known mutation testing for the COL1A1 c.3040C>T mutation.
Specimen Requirements: 5 cc of blood drawn in EDTA (lavender top tube) or DNA
| Caffey Mutation Testing | ||
| CPT CODE | DESCRIPTION | |
|---|---|---|
| 83898 | PCR amplification (x1) | |
| 83894 | Polyacrylamide gel electrophoresis | |
| 83904 | Mutation identification by sequencing (x2) | |
| 83912 | Interpretation and report, complex | |
| TOTAL | $205.00 | |
| DNA Extraction from Blood Sample | |
| CPT CODE | DESCRIPTION |
|---|---|
| 83891 | Extraction of highly purified DNA |
| TOTAL | $50.00 |
References:
Gensure et al J Clin Invest 115: 1250-1257, 2005 A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
Suphapeetiporn K et al Clin Genet Volume 71 Issue 3 Page 280-284, March 2007 Expanding the phenotypic spectrum of Caffey disease.