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Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes)
2012015
Ordering Recommendation

Preferred test for individuals with an undetermined skeletal dysplasia.

Mnemonic
SKEL PANEL
Methodology
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
10-12 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
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 Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Genes tested by sequencing: AGPS, ALPL, ARSE, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFT80, LBR, LEPRE1, LIFR, NEK1, PEX7, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4, TTC21B, WDR19, WDR35

Genes tested by deletion/duplication: AGPS, ALPL, ARSE, COL1A1, COL1A2, COL2A1, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, IFT80, LBR, LEPRE1, LIFR, NEK1, PEX7, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TRIP11, TTC21B, WDR19, WDR35
Components
Component Test Code*Component Chart NameLOINC
2012016Skeletal Dysplasia Panel Specimen31208-2
2012017Skeletal Dysplasia Panel Interp35474-6
* 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
  • AGPS
  • ALPL
  • ARSE
  • Campomelic dysplasia
  • COL1A1
  • COL1A2
  • COL2A1
  • COMP
  • CRTAP
  • Diastrophic dysplasia
  • DLL3
  • DYNC2H1
  • EBP
  • EVC
  • EVC2
  • FGFR1
  • FGFR2
  • FGFR3
  • FKBP10
  • FLNA
  • FLNB
  • GNPAT
  • HSPG2
  • IFT80
  • LBR
  • LEPRE1
  • LIFR
  • NEK1
  • Osteochondrodysplasia
  • Osteogenesis imperfecta
  • PEX7
  • POR
  • PPIB
  • RUNX2
  • SERPINH1
  • SLC26A2
  • SLC35D1
  • SOX9
  • Thanatophoric dysplasia
  • TRIP11
  • TRPV4
  • TTC21B
  • WDR19
  • WDR35