Ordering Recommendation

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

Mnemonic

SS NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1.5 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens

Remarks
Stability

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.

Compliance Category

Laboratory Developed Test (LDT)

Note

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

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