Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication

2012015
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Example Reports
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Positive

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Additional Technical Information

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Patient History for Skeletal Dysplasia Testing

Ordering Recommendation

Confirm diagnosis of a skeletal dysplasia in a symptomatic individual. Determine the causative gene variant(s) in an affected individual.

Mnemonic

SKEL PANEL

Methodology

Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

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, 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.

Hotline History

N/A

CPT Codes

81404; 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

  • Achondrogenesis type IB and II
  • Achondroplasia
  • Acromesomelic dysplasia
  • Asphyxiating thoracic dystrophy,2
  • Atelostogenesis
  • 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
  • Osteochondrodysplasia
  • Osteogenesis imperfecta
  • Otospondylomegaepiphyseal dysplasia
  • Platyspondylo dysplasia
  • Pseudoachondroplasia
  • 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
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication