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
- Capillary Sequencing
- Deletion/Duplication Analysis
- 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.