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Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal
2012010
Ordering Recommendation

Prenatal diagnosis for suspected fetal skeletal dysplasia.

Mnemonic
SKEL FE
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
4-6 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
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: 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
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 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
CPT Code(s)
81404 x2 (FGFR2, FGFR3); 81405 (FGFR1); 81408 x2 (COL1A1, COL1A2); 81479 x2; 81265 Fetal Cell Contamination
Components
Component Test Code*Component Chart NameLOINC
0050548Maternal Contamination Study Fetal Spec31208-2
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
  • 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