Number of Panel Genes: 

Cole-Carpenter syndrome is an osteogenesis imperfecta-like disorder. It is characterized by multiple pre- and postnatal bone fractures, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features. Autosomal dominant mutations in P4HB (Cole-Carpenter syndrome 1; MIM 112240) and autosomal recessive mutations in SEC24D (Cole-Carpenter syndrome 2; MIM 616294) can cause this more

Tests Available

2 Panel Genes: P4HB, SEC24D
Next Generation Sequencing
Test Code: 5188
Deletion / Duplication
Test Code: 5189
NGS/Del Dup Comprehensive
Test Code: 5190

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Osteogenesis Imperfecta and Low Bone Density Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 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: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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