Number of Panel Genes: 
3

Connective Tissue Gene Tests offers five panel options for osteogenesis imperfecta (OI) testing utilizing NextGen sequencing technology, an OI COL1A1 & COL1A2 panel, an OI core panel, aread more

Tests Available

3 Panel Genes: COL1A1, COL1A2, IFITM5
Next Generation Sequencing
$1,190
Test Code: 5232
Deletion / Duplication
$800
Test Code: 5233
NGS/Del Dup Comprehensive
$1,890
Test Code: 5234

Test Details

Technical Information
Panel Genes: 
COL1A1, COL1A2, IFITM5
Disease Groups: 
Osteogenesis Imperfecta and Low Bone Density Disorders
MIM: 
166200
166210
259420
166220
Billing
Price: 
$1,190
CPT Codes: 
81408 x 2
81479 x 1
Ordering
SKU:
5232
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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