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Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication
Ordering Recommendation
Use to confirm the causal variant(s) in individuals with clinical features of a skeletal dysplasia.
New York DOH Approval Status
Specimen Required
Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)
Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: 5 mL (Min: 2 mL)
Refrigerated.
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
14-21 days
Reference Interval
By report
Interpretive Data
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)
Note
GENES TESTED: AGPS; ALPL; ARSL; CANT1; CCN6; CILK1; COL1A1; COL1A2*; COL2A1; COL10A1; COL11A1; COL11A2; COMP; CRTAP; DDR2; DLL3; DYM*; DYNC2H1; EBP; EVC*; EVC2; FGFR1*; FGFR2; FGFR3; FKBP10; FLNA; FLNB; GDF5; GNPAT; HSPG2; IFT80; INPPL1; LBR; LIFR; NEK1*; NPR2; P3H1; PCNT; PEX7; POR*; PPIB; PTH1R; RUNX2; SERPINH1; SLC26A2; SLC35D1; SMARCAL1; SOX9; TRIP11; TRPV4; TTC21B; WDR19; WDR35
*One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; see Additional Technical Information.
Hotline History
CPT Codes
81405; 81408; 81479
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2012016 | Skeletal Dysplasia Panel Specimen | 31208-2 |
| 2012017 | Skeletal Dysplasia Panel Interp | 35474-6 |
Aliases
- Endocrine-cerebroosteo dysplasia
- Platyspondylo dysplasia
- Osteochondrodysplasia
- OI
- Wyers acrofacial dysostosis
- Abnormal ribs
- Achondrogenesis type IB and II
- Achondroplasia
- Acromesomelic dysplasia
- Asphyxiating thoracic dystrophy,2
- Atelostogenesis
- Bent bone dysplasia
- bowed bones
- 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
- Osteogenesis imperfecta
- Otospondylomegaepiphyseal dysplasia
- Thanatophoric dysplasia
- Juene syndrome
- Schneckenbecken dysplasia
- Frontometaphyseal dysplasia
- Microcephalic osteodysplastic primordial dwarfism
- Multiple synostosis syndrome
- Metaphyseal chondrodysplasia Murk Hansen type
- Short rib thoracic dysplasia
- Short rib-polydactyly type 2
- Spondylocostal dysostosis
- Spondyloepiphyseal dysplasia
- Spondylometaepiphyseal dysplasia
- Stuve-Wiedemann syndrome
- Terminal osseous dysplasia
- Metaphyseal dysplasia
- Greenburg dysplasia
- Epiphyseal dysplasia multiple
- Pseudoachondroplasia
- Sensenbrenner syndrome
- short long bones
- fractures
- Schwartz-Jampel syndrome
