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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.
Maternal cell contamination (MCC) analysis is required and performed at no additional charge. Order Maternal Cell Contamination, Maternal Specimen (0050608) on a maternal blood specimen.
For guidance on ordering maternal cell contamination studies, please refer to Maternal Cell Contamination (MCC) Analysis Guide.
New York DOH Approval Status
Specimen Required
Fetal Specimen: Cultured amniocytes OR cultured chorionic villi.
Maternal Specimen: Refer to Maternal Cell Contamination, Maternal Specimen (0050608) for maternal specimen requirements.
Cultured Amniocytes or Cultured CVS: Fill flasks with culture media. Transport two T-25 flasks of 90 percent confluent cultured amniocytes or two T-25 flasks of 90% cultured chorionic villi sampling (CVS).
This assay is not performed on direct amniotic fluid or direct chorionic villi specimens. Clients submitting direct amniotic fluid and direct chorionic villi must add Cell Culture for Genetic Testing (3020627) to the initial order.
If ARUP receives cultured specimens below the minimum confluence, Cell Culture for Genetic Testing (3020627) will be added by ARUP for an additional fee. The client is responsible for maintaining backup cultures.
Cultured Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to viability of cells.
Patient history forms and informed consent documents are available by selecting the links above or by contacting ARUP Client Services. Counseling and informed consent are recommended for genetic testing. New York Clients: Informed consent is required with specimen submission.
Cultured Amniocytes or Cultured CVS: Room temperature: 48 hours; Refrigerated: Unacceptable; 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. 5161.
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
14-21 days
Notes: Cell culture time is independent of testing turnaround time. Reported times are based on receiving the two T-25 flasks at 90 percent confluency. If cell culture is required at ARUP, an additional 1 to 2 weeks is required for processing time.
Reference Interval
Refer to report
Interpretive Data
Refer to report.
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.
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
