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
Collect

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

Refrigerated.

Unacceptable Conditions

Serum or plasma, grossly hemolyzed or frozen specimens

Remarks
Stability

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

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-15 days

Reference Interval

Refer to report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

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

When testing cord blood specimens, the presence of maternal cell contamination (MCC) is possible, which may impact result interpretation. If clinically warranted, testing for MCC is available, at a charge, through ARUP Laboratories.

Hotline History

N/A

CPT Codes

81479

Components

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.

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
Stickler Syndrome Panel, Sequencing