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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 [...]

+ Mutation-specific testing   + Prenatal testing

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.

+ Mutation-specific testing   + Prenatal testing

Tests Available

FLCN Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
FLCN
Clinical Utility:
  • 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
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
197
Turnaround Time:
6-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
List Price:
$1,650.00
Billing Information:
View Billing Policy
ICD Codes:
  • 216: Benign neoplasm of skin Includes: blue nevus dermatofibroma hydrocystoma pigmented nevus syringoadenoma syringoma
  • 748.4: Congenital cystic lung Disease, lung: cystic, congenital polycystic, congenital Honeycomb lung, congenital
  • 704.9: Unspecified disease of hair and hair follicles
  • 512.8: Other spontaneous pneumothorax Pneumothorax
  • V12.72: Colonic polyps
  • 189: Kidney, except pelvis Kidney NOS, Kidney parenchyma

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.

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