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
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Next Generation Sequencing
$1,050
Test Code: 5232
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Deletion / Duplication
$990
Test Code: 5233
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NGS/Del Dup Comprehensive
$1,250
Test Code: 5234
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Test Details
Technical Information
Panel Genes:
COL1A1, COL1A2, IFITM5
Disease Groups:
Osteogenesis Imperfecta and Low Bone Density Disorders
MIM:
166200
166210
259420
166220
Billing
CPT Codes:
81408 x 1
81479 x 1
Ordering
SKU:
5232 Turnaround Time:
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.
