Pneumothorax, Primary Spontaneous

Primary spontaneous pneumothorax (PSP), or collapsed lung, results from the presence of air in the pleural space in the absence of a precipitating event such as trauma or lung disease. Affected individuals have subpleural blebs or bullae in the lungs (localized emphysema-like changes) that are associated with destruction of lung tissue. The majority of cases are sporadic. Isolated familial PSP is rarer, and has been associated with mutations in the FLCN gene in a small number of families.

Tests Available

Forms and Documents

Test Details

  • 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


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse


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  2. Painter, J. et al., (2005) Am J Hum Genet. 76: 522-27
  3. Graham, R. et al., (2005) Am J Respir Crit Care Med. 172: 39-44.
  4. Kunogi, M. et al., (2010) J Med Genet 47:281-287.
  5. Benhammou et al., (2011) Genes Chromosomes Cancer 50:466-477.