Use to confirm a diagnosis of Stickler syndrome or a related disorder.
Massively Parallel Sequencing
New York DOH Approval Status
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1.5 mL)
Serum or plasma; grossly hemolyzed or frozen specimens
Ambient: 72 hours; Refrigerated: 1 week; 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: COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, VCAN
|Component Test Code*||Component Chart Name||LOINC|
|3001614||Stickler Syndrome Interp||35474-6|
|3001686||Stickler Syndrome Specimen||31208-2|
- 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