Caffey disease (MIM 114000) including infantile and prenatal cortical hyperostosis is an autosomal dominant disorder.  It is characterized by massive subperiosteal bone formation.  Caffey disease has a variable prognosis that is dependent on the age of presentation.  Infantile cortical hyperostosis is a benign disorder usually presenting before 5 months of age.  The acute manifestations in infantile cortical hyperostosis are typically inflammatory inread more

Tests Available

By gene: COL1A1
Sanger Sequencing
Test Code: 1071
Exon 41 only

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Test Details

Technical Information
Test Note: 
Exon 41 only
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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