Forms and Documents
- Confirmation of clinical diagnosis
- Identification of those individuals at risk for renal cancer (and other BHD-associated features) who first present with skin findings
- Identification of at-risk family members
- Recurrence risk calculation
- Prenatal diagnosis
- Capillary Sequencing
- 216 Benign neoplasm of skin Includes: blue nevus dermatofibroma hydrocystoma pigmented nevus syringoadenoma syringoma
- v12.72 Colonic polyps
- 748.4 Congenital cystic lung Disease, lung: cystic, congenital polycystic, congenital Honeycomb lung, congenital
- 189 Malignant neoplasm of kidney and other and unspecified urinary organs Excludes: benign carcinoid tumor of kidney (209.64) malignant carcinoid tumor of kidney (209.64)
- 512.8 Other spontaneous pneumothorax Pneumothorax
- 704.9 Unspecified disease of hair and hair follicles
- Kunogi, M. et al., (2010) J Med Genet 47:281-287.
- 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.
- Schmidt, L. et al., (2005) Am J Hum Genet. 76: 39-44.