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

Confirm diagnosis of a skeletal dysplasia in a symptomatic fetus. Determine if a fetus, that is at risk for a skeletal dysplasia based on a positive family history, is affected.

Mnemonic
SKEL FE
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
2-4 weeks, if culture is required an additional 1 to 2 weeks is required for processing time.
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
Fetal Specimen: Four (4) T-25 flasks at 80 percent confluent of cultured amniocytes or cultured CVS. If the client is unable to culture, this can be arranged by contacting ARUP Client Services at (800) 522-2787. 
AND Maternal Cell Contamination 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 four (4) T-25 flasks at 80 percent confluent of cultured cells filled with culture media. Backup cultures must be retained at the client's institution until testing is complete.
AND Maternal Cell Contamination Specimen: Transport 3 mL whole blood (Min: 1 mL) 
Storage/Transport Temperature
Culture Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to lability of cells.
Maternal Cell Contamination Specimen:
Room temperature. 
Unacceptable Conditions
 
Remarks
 
Stability
Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal:
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Refer to report.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Reported times are based on receiving the four T-25 flasks at 80 percent confluent. Cell culture time is independent of testing turn-around time. Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination.

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
View Hotline History
CPT Code(s)
81404; 81405; 81408; 81479; 81265 Fetal Cell Contamination (FCC)
Components
Component Test Code*Component Chart NameLOINC
0050548Maternal Contamination Study Fetal Spec59266-7
0050612Maternal Contam Study, Maternal Spec31208-2
2012011Skeletal Dysplasia Panel Specimen, Fetal
2012012Skeletal 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
  • 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