ANKRD11, HDAC8, KMT2A (MLL), NIPBL, RAD21, SMC1A, SMC3
- Cornelia de Lange Syndrome
- Diagnosis in a patient based on clinical or radiographic findings suggestive of a skeletal dysplasia
- Diagnosis for known familial pathogenic variant(s)
- Distinguish between causes and forms of skeletal dysplasias
- Genetic counseling, especially regarding recurrence risk
- 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