Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication

2012015
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Example Reports
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Positive

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Patient History for Skeletal Dysplasia Testing

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Additional Technical Information
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.

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