Ordering Recommendation

Use to confirm a diagnosis of Stickler syndrome or a related disorder.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation

Lavender (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Min: 1.5 mL)
New York State Clients: 5 mL (Min: 3 mL)

Storage/Transport Temperature


Unacceptable Conditions

Serum or plasma, grossly hemolyzed or frozen specimens


Ambient: 72 hours; Refrigerated: 2 weeks ; Frozen: Unacceptable
New York State Clients: Ambient: 48 hours; Refrigerated: 1 week; Frozen: Unacceptable


Massively Parallel Sequencing




10-15 days

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 U.S. 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.

Compliance Category

Laboratory Developed Test (LDT)


Genes tested: COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, VCAN

Hotline History


CPT Codes



Component Test Code* Component Chart Name LOINC
3001614 Stickler Syndrome Interp 35474-6
3001686 Stickler Syndrome Specimen 31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • 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
Stickler Syndrome Panel, Sequencing