Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication
Also known as: SKEL PANEL
Use
This test is used to confirm the causal variant(s) in individuals with clinical features of a skeletal dysplasia. Skeletal dysplasias are a heterogeneous group of more than 400 disorders characterized by abnormal growth of cartilage or bone. Clinical features may include shortening, bowing, fracturing, thinning, thickening, or under mineralization of the bones; abnormal ribs; small chest circumference; and extra fingers or toes. Some disorders may be detectable prenatally, while others are not identified until birth or later childhood. The test's clinical sensitivity is dependent on the specific skeletal dysplasia, being 99 percent for achondroplasia and thanatophoric dysplasia, greater than 95 percent for COL1A1/2 osteogenesis imperfecta, and greater than 90 percent for achondrogenesis type 1B, diastrophic dysplasia, and campomelic dysplasia.
Special Instructions
Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Limitations
This test only detects variants within the coding regions and intron-exon boundaries of the targeted genes. Variants in the chr17:70,119,704-70,119,743 region of SOX9 exon 3 may not be detected. Deletions/duplications/insertions of any size may not be detected by massively parallel sequencing. Regulatory region variants and deep intronic variants will not be identified, including deletions/duplications in the upstream regulatory region of SOX9. Precise breakpoints for large deletions or duplications are not determined in this assay, and single exon deletions/duplications may not be detected based on the breakpoints of the rearrangement. This test is not intended to detect duplications of 2 or fewer exons in size, though these may be identified. Single exon deletions are reported but called at a lower sensitivity. Diagnostic errors can occur due to rare sequence variations. In some cases, variants may not be identified due to technical limitations caused by the presence of pseudogenes, repetitive, or homologous regions. This test is not intended to detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA (mtDNA) mutations, or repeat expansions.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 31208-2
- 35474-6
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Collection Instructions
Transport 3 mL whole blood. (Min: 2 mL) New York State Clients: 5 mL (Min: 2 mL)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |