Osteogenesis imperfecta COL1A1 & COL1A2 NGS panel
Number of Panel Genes2
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, a dominant OI panel, a recessive OI panel and a combined dominant and recessive 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.
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, a dominant OI panel, a recessive OI panel and a combined dominant and recessive 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.
Copy number variation (CNV) analysis of the Osteogenesis imperfecta genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.
Gene(s)
Disease Group
Methodology
Billing
Ordering
Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
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
