Variant Names: 
Brittle bone disease

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: COL1A1
Next Generation Sequencing
$900
Test Code: 1601
Deletion / Duplication
$680
Test Code: 1217
NGS/Del Dup Comprehensive
$1,480
Test Code: 1602

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Test Details

Technical Information
Genes: 
COL1A1
Disease Groups: 
Osteogenesis Imperfecta and Low Bone Density Disorders
MIM: 
166200
166210
259420
166220
Billing
Price: 
$900
CPT Codes: 
81408 x 1
Ordering
SKU:
1601
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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