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.
- Braverman, N, Moser, A and Steinberg, S. (Updated September 13, 2012). Rhizomelic Chondrodysplasia Punctata Type 1. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-20
- Braverman NE, Bober M, Brunetti-Pierri N, et al. Chondrodysplasia Punctata 1, X-Linked. 2008 Apr 22 [Updated 2014 Nov 20]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-
- Dempsey MA, Tan C, Herman GE. Chondrodysplasia Punctata 2, X-Linked. 2011 May 31. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm