Number of Panel Genes:
2
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 disorder.read more
Tests Available
2 Panel Genes: P4HB, SEC24D
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Next Generation Sequencing
$1,100
Test Code: 5188
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Deletion / Duplication
$990
Test Code: 5189
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NGS/Del Dup Comprehensive
$1,475
Test Code: 5190
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Test Details
Technical Information
Panel Genes:
P4HB, SEC24D
Disease Groups:
Osteogenesis Imperfecta and Low Bone Density Disorders
Billing
Price:
$1,100
CPT Codes:
81479 x 2
Ordering
SKU:
5188 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 4 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.
