Number of Panel Genes: 
7

Connective Tissue Gene Tests offers three options for osteogenesis imperfecta (OI) testing utilizing NextGen sequencing technology, a dominant OI panel, a recessive OI panel and a combined OI panel.  In addition to genes associated with the autosomal dominant and autosomal recessive forms of OI, the panels also contain genes for disorders included in the differential diagnosis of OI.read more

Tests Available

7 Panel Genes: ANO5, ALPL, COL1A1, COL1A2, IFITM5, PLS3, P4HB
Next Generation Sequencing
$1,290
Test Code: 5097
Deletion / Duplication
$990
Test Code: 5098
NGS/Del Dup Comprehensive
$2,130
Test Code: 5099

Test Details

Technical Information
Panel Genes: 
ANO5, ALPL, COL1A1, COL1A2, IFITM5, PLS3, P4HB
Disease Groups: 
Osteogenesis Imperfecta and Low Bone Density Disorders
MIM: 
166200
166210
259420
166220
610967
146300
112240
166260
Billing
Price: 
$1,290
CPT Codes: 
81479 x 4
81408 x 2
81406 x 1
Ordering
SKU:
5097
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.

Search Tests

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