Number of Panel Genes: 
2

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

2 Panel Genes: COL1A1, COL1A2
Next Generation Sequencing
$1,100
Test Code: 1216
Genes COL1A1 and COL1A2
Deletion / Duplication
$750
Test Code: 1599
NGS/Del Dup Comprehensive
$1,750
Test Code: 1600

Test Details

Technical Information
Panel Genes: 
COL1A1, COL1A2
Test Note: 
Genes COL1A1 and COL1A2
Disease Groups: 
Osteogenesis Imperfecta and Low Bone Density Disorders
MIM: 
166200
166210
259420
166220
Billing
Price: 
$1,100
CPT Codes: 
81408 x 2
Ordering
SKU:
1216
Turnaround Time: 
Typically 3 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: 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.

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