Forms and Documents
- Confirmation of clinical diagnosis
- Prenatal diagnosis
*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.
- Van Steensel et al. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol 121:1035-1038, 2003
- Smith et al. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multipolex. J Invest Dermatol 1108:220-223, 1997
- Terrinoni et al. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol 117:1391-1396, 2001