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Stickler Syndrome Panel

New York
Approved


Genes

COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3

Conditions

  • 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

TA02

CPT Codes*

81479x1

ABN Required

No

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.