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

FLCN
  • 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

Ordering

197
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 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
* For price inquiries please email zebras@genedx.com

References

  1. Kunogi, M. et al., (2010) J Med Genet 47:281-287.
  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. Schmidt, L. et al., (2005) Am J Hum Genet. 76: 39-44.

Forms and Documents

Test Details

FLCN
  • 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
  • Exon Array CGH

Ordering

714
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Schmidt, L. et al., (2005) Am J Hum Genet. 76: 39-44.
  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.