Skeletal dysplasia core NGS panel
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 NGS panel consists of ten genes: ALPL, COL1A1, COL1A2, COL2A1, FGFR3, INPPL1, NKX3-2, SLC26A2, SOX9, TRIP11.
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 |
Genes(s)
Disease Group(s)
MIM
Billing
Ordering
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