Skeletal dysplasia core & extended NGS panel
Number of Panel Genes29
Connective Tissue Gene Tests offers three options for skeletal dysplasia testing. The core skeletal dysplasia panel is designed to detect mutations in genes responsible for lethal or severe skeletal dysplasias that occur with a high incidence. The extended skeletal dysplasia panel contains genes linked to disorders that are also phenotypically severe but occur less frequently.
Connective Tissue Gene Tests offers three options for skeletal dysplasia testing. The core skeletal dysplasia panel is designed to detect mutations in genes responsible for lethal or severe skeletal dysplasias that occur with a high incidence. The extended skeletal dysplasia panel contains genes linked to disorders that are also phenotypically severe but occur less frequently. These two panels may also be ordered as a single combined panel (Skeletal dysplasia core & extended NGS panel). The Skeletal dysplasia core and extended panel may also be combined with the Skeletal ciliopathy NGS panel.
The genes constituting these panels have been selected with input from several clinical geneticists with expertise in the skeletal dysplasia field.
The Skeletal dysplasia core & extended NGS panel consists of twenty-nine genes: ALPL, ARSL, COL1A1, COL1A2, COL2A1, COL10A1, COL11A1, COL11A2, DDR2, EBP, FGFR3, INPPL1, NKX3-2, FLNB, HSPG2, LBR, LIFR, MMP9, MMP13, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4.
Copy number variation (CNV) analysis of the skeletal dysplasia 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.
Core Skeletal Dysplasia Panel
| Gene | Disorder | MIM | Inheritance |
| ALPL | Hypophosphatasia, adult Hypophosphatasia, childhood Hypophosphatasia, infantile |
146300 241510 241500 |
AD / AR |
| 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 II (OI2) Osteogenesis imperfecta, type III (OI3) Osteogenesis imperfecta, type IV (OI4) |
166210 259420 166220 |
AD |
| COL2A1 | Achondrogenesis, type II (ACG2) and Hypochondrogenesis Platyspondylic skeletal dysplasia, Torrance type (PLSTD) Spondyloepiphyseal dysplasia congenita (SEDC) |
200610 151210 183900 |
AD |
| FGFR3 | Achondroplasia (ACH) Hypochondroplasia (HCH) Thanatophoric dysplasia, type I (TD1) Thanatophoric dysplasia, type II (TD2) |
100800 146000 187600 187601 |
AD |
| INPPL1 | Opsismodysplasia (OPSMD) | 258480 | AR |
| NKX3-2 | Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) | 613330 | AR |
| SLC26A2 | Achondrogenesis, type IB (ACG1B) Atelosteogenesis, type II (AO2) Diastrophic dysplasia (DTD) |
600972 256050 222600 |
AR |
| SOX9 | Campomelic dysplasia | 114290 | AD |
| TRIP11 | Achondrogenesis, type IA (ACG1A) | 200600 | AR |
Extended Skeletal Dysplasia Panel
| Gene | Disorder | MIM | Inheritance |
| ARSL | Chondrodysplasia punctata, X-linked recessive (CDPX1) | 302950 | XL |
| COL10A1 | Metaphyseal chondrodysplasia, Schmid type (MCDS) | 156500 | AD |
| COL11A1 | Fibrochondrogenesis 1 (FBCG1) | 228520 | AR |
| COL11A2 | Fibrochondrogenesis 2 (FBCG2) | 614524 | AR |
| DDR2 | Spondylometaepiphyseal dysplasia, short limb-hand type | 271665 | AR |
| EBP | Chondrodysplasia punctata, X-linked dominant (CDPX2) | 302960 | XL |
| FLNB | Atelosteogenesis, type I and III (AO1) Atelosteogenesis, type II (AO2) Boomerang dysplasia |
108720 108721 112310 |
AD |
| HSPG2 | Dyssegmental dysplasia, Silvermann-Handmaker type (DDSH) Schwartz-Jampel syndrome, type 1 (SJS1) |
224410 255800 |
AR |
| LBR | HEM skeletal dysplasia / Greenberg dysplasia (GRBGD) | 215140 | AR |
| LIFR | Stuve-Wiedemann syndrome / Schwartz-Jampel syndrome type 2 | 601559 | AR |
| MMP9 | Metaphyseal anadysplasia 2 (MANDP2) | 613073 | AR |
| MMP13 | Metaphyseal anadysplasia 1 (MANDP1) (Spondyloepimetaphyseal dysplasia, missouri type) Metaphyseal dysplasia, Spahr type (MDST) |
602111 250400 |
AD AR |
| NSDHL | Congenital hemidysplasia with ichthyosiform erythrodema and limb defects (CHILD syndrome) | 308050 | XLD |
| PEX7 | Rhizomelic chondrodysplasia punctata, type 1 (RCDP1) | 215100 | AR |
| PTH1R | Metaphyseal chondrodysplasia, Murk Jansen type Chondrodysplasia, Blomstrand type (BOCD) |
156400 215045 |
AD AR |
| RMRP | Anauxetic dysplasia (ANXD1) Cartilage-hair hypoplasia (CHH) Metaphyseal dysplasia without hypotrichosis (MDWH) |
607095 250250 250460 |
AR |
| SBDS | Shwachman-Diamond syndrome 1 (SDS1) | 260400 | AR |
| SLC35D1 | Schneckenbecken dysplasia (SHNKND) | 269250 | AR |
| TRPV4 | Metatropic dysplasia Parastremmatic dwarfism |
156530 168400 |
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
