2012010
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Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal

SKEL FE
Example Reports
Negative
Positive

Ordering Recommendation

Use to confirm the causal variant(s) in a fetus with clinical features of a skeletal dysplasia. Predictive testing in a fetus known to be at risk for a skeletal dysplasia based on family history.

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

Fetal Specimen: Two T-25 flasks at 90% confluent of cultured amniocytes or cultured chorionic villus sampling (CVS).
AND Maternal Whole Blood Specimen: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Cultured Amniocytes or Cultured CVS: Fill flasks with culture media. Transport two T-25 flasks at 90 percent confluent of cultured amniocytes or cultured CVS filled with culture media. Backup cultures must be retained at the client's institution until testing is complete. If ARUP receives a sample below the minimum confluence, CG GRW&SND (0040182) will be added on by ARUP, and additional charges will apply. If clients are unable to culture specimens, CG GRW&SND should be added to initial order.
Maternal Whole Blood Specimen: Transport 3 mL whole blood (Min: 1 mL)
New York State Clients: Specimens must be sent overnight to the performing laboratory. For specimen requirements and direct submission instructions please contact ARUP Referral Testing at 800-242-2787 ext. 5161.

Storage/Transport Temperature

Cultured Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to viability of cells.
Maternal Specimen: Room temperature.

Unacceptable Conditions
Remarks
Stability

Cultured Amniocytes or Cultured CVS: Room temperature: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Whole Blood Specimen: Room temperature: 7 days; Refrigerated: 1 month; Frozen: Unacceptable
New York State Clients: Specimens must be received at performing laboratory within 24 hours of shipping. Older specimens will be evaluated by performing laboratory for acceptability. For specimen requirements and direct submission instructions please contact ARUP Referral Testing at 800-242-2787 ext. 5161.

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

14-21 days
If culture is required, an additional 1 to 2 weeks is required for processing time.

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.

Reported times are based on receiving the two T-25 flasks at 90 percent confluent. Cell culture time is independent of testing turnaround time . Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination.

Hotline History

N/A

CPT Codes

81405; 81408; 81479; 81265

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Components

Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 66746-9
2012011 Skeletal Dysplasia Panel Specimen, Fetal
2012012 Skeletal Dysplasia Panel Interp, Fetal
* 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
    ciastrophic dysplasia
    cisordered steroidogenesis
    Cleidocranial dysplasia
    Cranioectodermal dysplasia
    cyssegmental dysplasia
    Desbuquois dysplasia
    Diastrophic dysplasia
    Disordered steroidogenesis
    Dyssegmental dysplasia
    Ellis Van Crevald syndrome
    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, Fetal