COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
- Multiple Epiphyseal Dysplasia (MED)
- Stickler syndrome
- Non-ocular stickler (STL3) / otospondylomegaepiphyseal dysplasia (OSMED)/ DFNA13/ DFNB53
- Marshall syndrome
- Spondyloepiphyseal dysplasia spectrum disorders
- Weissenbach-Zweymuller syndrome
- 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
- Next-Gen Sequencing
- Deletion/Duplication Analysis
*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.
Targeted Variant Testing