Forms and Documents
- 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
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
**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.
- Kline et al. (1993) Am J Med Genet 47:1042-1049.(PMID:8291521)
- Deardorff MA, Noon SE, Krantz ID. Cornelia de Lange Syndrome. 2005 Sep 16 [Updated 2016 Jan 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
- Yuan et al. (2015) The Journal Of Clinical Investigation 125 (2):636-51 (PMID: 25574841)
- Mannini L, et al. (2013) Hu Mutat. 34(12) (PMID: 24038889)
- Parenti et al. (2015) Clinical Genetics : (PMID: 25652421)