Osteogenesis imperfecta NGS panel - Recessive
Number of Panel Genes20
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.
The Recessive osteogenesis imperfecta panel consist of twenty genes: ALPL, BMP1, CREB3L1, CRTAP, FKBP10, LRP5, MBTPS2, P3H1, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, TMEM38B, WNT1 and XYLT2.
Copy number variation (CNV) analysis of the Recessive 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 Recessive Panel
| Gene | Disorder (MIM) | MIM | Inheritance |
| SERPINF1 | Osteogenesis imperfecta, type VI (OI6) | 613982 | AR |
| CRTAP | Osteogenesis imperfecta, type VII (OI7) | 610682 | AR |
| P3H1 (LEPRE1) | Osteogenesis imperfecta, type VIII (OI8) | 610915 | AR |
| PPIB | Osteogenesis imperfecta, type IX (OI9) | 259440 | AR |
| SERPINH1 | Osteogenesis imperfecta, type X (OI10) | 613848 | AR |
| FKBP10 | Osteogenesis imperfecta, type XI (OI11) Bruck syndrome 1 (BRKS1) |
610968 259450 |
AR |
| SP7 | Osteogenesis imperfecta, type XII (OI12) | 613849 | AR |
| BMP1 | Osteogenesis imperfecta, type XIII (OI13) | 614856 | AR |
| TMEM38B | Osteogenesis imperfecta, type XIV (OI14) | 615066 | AR |
| WNT1 | Osteogenesis imperfecta, type XV (OI15) | 615220 | AR |
| CREB3L1 | Osteogenesis imperfecta, type XVI (OI16) | 616229 | AR |
| SPARC | Osteogenesis imperfecta, type XVII (OI17) | 616507 | AR |
| ALPL | Hypophosphatasia, adult Hypophosphatasia, childhood Hypophosphatasia, infantile |
146300 241510 241500 |
AR/AD |
| LRP5 | Osteoporosis-pseudoglioma syndrome (OPPG) | 259770 | AR |
| MBTPS2 | Osteogenesis imperfecta, MBTPS2 related | - | XLR |
| PLOD2 | Bruck syndrome 2 (BRKS2) | 609220 | AR |
| PLS3 | PLS3 related Bone mineral density quantitative trait locus 18 (BMND18) | 300910 | XL |
| SEC24D | Cole-Carpenter syndrome 2 (CLCRP2) | 616294 | AR |
| TAPT1 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) | 616897 | AR |
| XYLT2 | Spondyloocular syndrome (SOS) | 605822 | AR |
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
