Osteogenesis imperfecta core NGS panel
Number of Panel Genes3
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
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.
The Osteogenesis imperfecta core NGS panel consists of three genes: COL1A1, COL1A2 and IFITM5.
Copy number variation (CNV) analysis of the Osteogenesis imperfecta core 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.
Osteogenesis imperfecta core panel
| Gene | Disorder | MIM | Inheritance |
| COL1A1 | Osteogenesis imperfecta, type I (OI1) Osteogenesis imperfecta, type II (OI2) Osteogenesis imperfecta, type III (OI3) Osteogenesis imperfecta, type IV (OI4) |
166200 166210 259420 166220 |
AD |
| COL1A2 | Osteogenesis imperfecta, type I (OI1) Osteogenesis imperfecta, type II (OI2) Osteogenesis imperfecta, type III (OI3) Osteogenesis imperfecta, type IV (OI4) |
166200 166210 259420 166220 |
AD |
| IFITM5 | Osteogenesis imperfecta, type V (OI5) | 610967 | AD |
Gene(s)
Disease Group
MIM
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
