FLCN Gene Sequencing and Del/Dup

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.