Osteogenesis imperfecta NGS panel - Dominant
Number of Panel Genes7
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
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.
OI, Dominant Panel
|
Gene
|
Disorder
|
MIM
|
Inheritance
|
|
ALPL
|
Hypophosphatasia, adult
|
146300
|
AD
|
|
ANO5
|
Gnathodiaphyseal dysplasia
|
166260
|
AD
|
|
COL1A1
|
Ehlers-Danlos syndrome, arthrochalasia type, 1 (EDSARTH1)
Osteogenesis imperfecta, type I (OI1)
Osteogenesis imperfecta, type II (OI2)
Osteogenesis imperfecta, type III (OI3)
Osteogenesis imperfecta, type IV (OI4)
|
130060
166200
166210
259420
166220
|
AD
|
|
COL1A2
|
Ehlers-Danlos syndrome, arthrochalasia type, 2 (EDSARTH2)
Osteogenesis imperfecta, type II (OI2)
Osteogenesis imperfecta, type III (OI3)
Osteogenesis imperfecta, type IV (OI4)
|
617821
166210
259420
166220
|
AD
|
|
IFITM5
|
Osteogenesis imperfecta, type V (OI5)
|
610967
|
AD
|
|
P4HB
|
Cole-Carpenter syndrome 1
|
112240
|
AD
|
|
PLS3
|
PLS3 related Bone mineral density quantitative trait locus 18 (BMND18)
|
300910
|
XL
|
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
