Confirm diagnosis of a skeletal dysplasia in a symptomatic individual. Determine the causative gene variant(s) in an affected individual.
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
New York DOH Approval Status
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
GENES TESTED: AGPS, ALPL, ARSE, CANT1**, COL1A1, COL1A2, COL2A1, COMP**, CRTAP, DDR2**, DLL3, DYNC2H1, EBP, EVC*, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GDF5**, GNPAT, HSPG2**, ICK, IFT80, LBR, LIFR, NEK1, P3H1, PCNT**, PEX7, POR, PPIB, PTH1R**, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4**, TTC21B, WDR19, WDR35
* One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
** Deletion/duplication detection is not available for this gene.
81228; 81404; 81405; 81408; 81479
|Component Test Code*||Component Chart Name||LOINC|
|2012016||Skeletal Dysplasia Panel Specimen||31208-2|
|2012017||Skeletal Dysplasia Panel Interp||35474-6|
- Achondrogenesis type IB and II
- Acromesomelic dysplasia
- Asphyxiating thoracic dystrophy,2
- Bent bone dysplasia
- Bruck syndrome I
- Campomelic dysplasia
- Chondrodysplasia Blomstrand type
- Chondrodysplasia Grebe type
- Chondrodysplasia punctate
- Cleidocranial dysplasia
- Cranioectodermal dysplasia
- Desbuquois dysplasia
- Diastrophic dysplasia
- Disordered steroidogenesis
- Dyssegmental dysplasia
- Ellis Van Crevald
- Endocrine-cerebroosteo dysplasia
- Epiphyseal dysplasia multiple
- Frontometaphyseal dysplasia
- Greenburg dysplasia
- Juene syndrome
- Metaphyseal chondrodysplasia Murk Hansen type
- Metaphyseal dysplasia
- Microcephalic osteodysplastic primordial dwarfism
- Multiple synostosis syndrome
- Osteogenesis imperfecta
- Otospondylomegaepiphyseal dysplasia
- Platyspondylo dysplasia
- Schneckenbecken dysplasia
- Schwartz-Jampel syndrome
- Sensenbrenner syndrome
- Short rib thoracic dysplasia
- Short rib-polydactyly type 2
- Spondylocostal dysostosis
- Spondyloepiphyseal dysplasia
- Spondylometaepiphyseal dysplasia
- Stuve-Wiedemann syndrome
- Terminal osseous dysplasia
- Thanatophoric dysplasia
- Wyers acrofacial dysostosis