Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal
Also known as: SKEL FE
Use
The Skeletal Dysplasia Panel is used to confirm causal variant(s) in a fetus with clinical features of skeletal dysplasia. It is also utilized for predictive testing in fetuses at risk due to family history. Skeletal dysplasias represent a heterogeneous group of over 400 disorders characterized by abnormalities in cartilage and bone growth, detectable prenatally in some cases. The panel analyzes genes associated with cartilage and bone growth, which are involved in autosomal recessive, autosomal dominant, and X-linked inheritance patterns. Clinical sensitivity varies by condition, with high accuracy for specific dysplasias like achondroplasia and thanatophoric dysplasia, and somewhat lower sensitivity for others such as diastrophic dysplasia.
Special Instructions
Informed consent for genetic testing is required for New York patients, along with submission of the Skeletal Dysplasia Testing Patient History Form. Cultures of samples must reach specific confluence, and backup cultures should be kept at the client's facility until testing is complete. If sample culture is inadequate, additional charges for culture growth may apply. Maternal specimen collection is recommended for accurate interpretation and to check for maternal cell contamination. Counseling and genetic consultation are recommended.
Limitations
This test only detects variants within the coding and intron-exon boundaries of the targeted genes. It does not detect regulatory region variants, deep intronic variants, or mitochondrial DNA mutations. It is not intended to detect low-level mosaic variants or structural variants like complex inversions and translocations. Regions such as chr17:70,119,704-70,119,743 on SOX9 exon 3 may not be detected. Single exon deletions/duplications may have reduced sensitivity.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 59266-7
- 66746-9
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Cell Pellet
Volume
Not provided
Minimum Volume
Not provided
Container
Two T-25 flasks at 90% confluent
Collection Instructions
Fill flasks with culture media. Transport two T-25 flasks at 90 percent confluent of cultured amniocytes or cultured CVS filled with culture media.
Storage Instructions
Transport at room temperature. Critical to receive within 48 hours of shipment due to viability of cells.
Causes for Rejection
Below minimum confluence
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | Unacceptable |
| Frozen | Unacceptable |