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.
Massively Parallel Sequencing
2-4 weeks, if culture is required an additional 1 to 2 weeks is required for processing time.
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).
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)
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.
Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
Laboratory Developed Test (LDT)
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.
81404; 81405; 81408; 81479; 81265 Fetal Cell Contamination (FCC)
|Component Test Code*||Component Chart Name||LOINC|
|0050548||Maternal Contamination Study Fetal Spec||59266-7|
|0050612||Maternal Contam Study, Maternal Spec||31208-2|
|2012011||Skeletal Dysplasia Panel Specimen, Fetal|
|2012012||Skeletal Dysplasia Panel Interp, Fetal|
- Achondrogenesis type IB and II
- Acromesomelic dysplasia
- Asphyxiating thoracic dystrophy,2
- 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
- Osteogenesis imperfecta
- Otospondylomegaepiphyseal dysplasia
- Platyspondylo dysplasia
- 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