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Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal
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
Specimen Required
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).
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. 5145.
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.
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. 5145.
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.
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
Hotline History
CPT Codes
81405; 81408; 81479; 81265
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 |
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
