Osteogenesis imperfecta (OI), or brittle bone disease, is a heritable disorder of connective tissue characterized by bone fragility and low bone mass. OI is clinically and genetically heterogeneous with severity varying from mild to perinatal lethal. Mutations in the COL1A1 and COL1A2 genes cause approximately 90% of OI cases. COL1A1 and COL1A2 encode the alpha 1 and alpha 2 procollagen chains of type I collagen.read more

Tests Available

By gene: P4HB
Sanger Sequencing
$795
Test Code: 2081
Deletion / Duplication
$680
Test Code: 2082
Sanger/Del Dup Comprehensive
$1,375
Test Code: 2083

Related Panels
Cole-Carpenter syndrome NGS panel (2 genes)
NGS $1,100
Del Dup $750
Comp $1,750

Test Details

Technical Information
Genes: 
P4HB
Disease Groups: 
Osteogenesis Imperfecta and Low Bone Density Disorders
Craniosynostosis and Craniofacial Disorders
MIM: 
112240
Billing
Price: 
$795
CPT Codes: 
81479 x 1
Ordering
SKU:
2081
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)
Shipping: 

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

Search Tests

TIP: enter a partial disorder name or gene to widen your search