Forms and Documents
- An individual with a personal and family history of tumors or other clinical features associated with Birt-Hogg-Dubé syndrome (BHD), such as oncocytic, chromophobe, or oncocytic hybrid renal tumors; benign skin papules (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, acrocordons); multiple bilateral lung cysts; spontaneous pneumothorax.
- An individual with multiple skin papules with at least one biopsy-proven fibrofolliculoma
- An individual with bilateral or multi-focal oncocytic, chromophobe, or oncocytic hybrid renal tumors
- An individual with a personal and family history of unexplained isolated primary spontaneous pneumothorax (PSP)
- An unaffected individual with a family history suggestive of BHD (see above) when an affected individual is unavailable for his or her own genetic testing
*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.
- Schmidt, L. et al., (2005) Am J Hum Genet. 76: 39-44.
- Painter, J. et al., (2005) Am J Hum Genet. 76: 522-27
- Graham, R. et al., (2005) Am J Respir Crit Care Med. 172: 39-44.
- Kunogi, M. et al., (2010) J Med Genet 47:281-287.
- Benhammou et al., (2011) Genes Chromosomes Cancer 50:466-477.