Stickler Syndrome Panel
New York
Approved
Genes
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
Alternative Specimen
*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.
**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.
Test Documents
Billing
For Providers
Targeted Variant Testing