2012015
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Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication

SKEL PANEL
Example Reports
Negative
Positive

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Skeletal Dysplasia Testing Patient History Form

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Additional Technical Information

Ordering Recommendation

Use to confirm the causal variant(s) in individuals with clinical features of a skeletal dysplasia.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: 5 mL (Min: 2 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.

Remarks
Stability

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.

Compliance Category

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

N/A

CPT Codes

81405; 81408; 81479

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Components

Component Test Code* Component Chart Name LOINC
2012016 Skeletal Dysplasia Panel Specimen 31208-2
2012017 Skeletal Dysplasia Panel Interp 35474-6
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • 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
  • Endocrine-cerebroosteo dysplasia
  • Epiphyseal dysplasia multiple
  • fractures
  • Frontometaphyseal dysplasia
  • Greenburg dysplasia
  • Juene syndrome
  • Metaphyseal chondrodysplasia Murk Hansen type
  • Metaphyseal dysplasia
  • Microcephalic osteodysplastic primordial dwarfism
  • Multiple synostosis syndrome
  • OI
  • Osteochondrodysplasia
  • Osteogenesis imperfecta
  • Otospondylomegaepiphyseal dysplasia
  • Platyspondylo dysplasia
  • Pseudoachondroplasia
  • Schneckenbecken dysplasia
  • Schwartz-Jampel syndrome
  • Sensenbrenner syndrome
  • short long bones
  • 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
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication