Ordering Recommendation
Use to confirm a diagnosis of Stickler syndrome or a related disorder.
Mnemonic
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
14-21 days
New York DOH Approval Status
Specimen Required
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1.5 mL)
Refrigerated.
Serum or plasma; grossly hemolyzed or frozen specimens
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
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)
Note
Genes tested: COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, VCAN
Hotline History
Hotline History
CPT Codes
81479
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3001614 | Stickler Syndrome Interp | 35474-6 |
3001686 | Stickler Syndrome Specimen | 31208-2 |
Aliases
- achondrogenesis
- fibrochondrogenesis
- Kneist dysplasia
- Legg-Calve-Perthes disease
- Marshall syndrome
- multiple epiphyseal dysplasia
- otospondylomegaepiphyseal dysplasia
- platyspondylic lethal skeletal dysplasia
- spondyloepiphyseal dysplasia
- spondyloperipheral dysplasia
- type II collagenopathy
- Wagner vitreoretinopathy