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Stickler Syndrome Panel

New York


COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3


  • Multiple Epiphyseal Dysplasia (MED)
  • Stickler syndrome
  • Non-ocular stickler (STL3) / otospondylomegaepiphyseal dysplasia (OSMED)/ DFNA13/ DFNB53
  • Fibrochondrogenesis
  • Marshall syndrome
  • Spondyloepiphyseal dysplasia spectrum disorders
  • Weissenbach-Zweymuller syndrome

Clinical Utility

  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
  • Genetic counseling and recurrence risk determination

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code


CPT Codes*


ABN Required


Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.