Skeletal Dysplasia Panel, Sequencing and Deletion-Duplication

Overview

  • EPIC Code:
  • MISC
  • Soft Test Code:
  • MSOT
  • Send Out Test Code:
  • 2012015
Alternate Names
  • 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
Included Tests

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.


Clinical Significance

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


Specimen Collection & Preparation

Client Notes

Please contact the laboratory at 266-1500 (Option 1) if this is prenatal testing or for payment requirements of this test


Required Forms & Information

Skeletal Dysplasia Testing Patient History Form


Specimen Requirements:

-OR-

3.0 mL Whole Blood in a Lavender Top Tube - EDTA
Minimum Volume:
2.0 mL Whole Blood in a Lavender Top Tube - EDTA*

* This volume does not allow for repeat testing

Transport and Storage:
  • Ambient: 72 Ambient
  • Refrigerated: 1 Week

    Transport 

  • Frozen (-20 C or colder): Unacceptable

    Buccal brush or swab

    FFPE tissue

    Frozen

    Grossly hemolyzed

    Plasma

    Saliva

    Serum

Clinical Interpretation

Reference Range:

Refer to Interpretive Results


Methodology:
  • Massively Parallel Sequencing
Clinical Significance

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


Production Schedule

Sites Performed
  • ARUP Lab
Departments
  • Sendouts - Clinical
Turn Around Time

14 to 21 days


Coding & Compliance

CDM

00913333


CPT Coding

81405; 81408; 81479