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.
Massively Parallel Sequencing
2-4 weeks, if culture is required an additional 1 to 2 weeks is required for processing time.
New York DOH Approval Status
Fetal specimen: Two (2) T-25 flasks at 80% 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 (2) T-25 flasks at 80% 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 the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787 ext. 2141 prior to test submission.
Maternal whole blood specimen: Transport 3 mL whole blood. (Min: 2 mL).
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
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)
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.
Cell culture time is independent of testing turnaround time. Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination.
81405; 81408; 81479; 81265
|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|
- abnormal ribs
- Achondrogenesis type IB and II
- Acromesomelic dysplasia
- Asphyxiating thoracic dystrophy,2
- 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
- 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 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