301-519-2100 • FAX 301-519-2892 • 207 PERRY PARKWAY GAITHERSBURG, MD 20877  
 
  
SEARCH

Birt-Hogg-Dube Syndrome
Pneumothorax, Primary Spontaneous

  • FLCN (folliculin)
Birt-Hogg-Dubé (BHD) syndrome is a rare inherited genodermatosis characterized by small, firm, dome-shaped papules (fibrofolliculomas), distributed over the forehead, face, neck and upper truck. Other associated skin lesions include trichodiscomas and acrocordons. Frequently associated findings include spontaneous pneumothorax, lung cysts, and renal tumors. We offer mutation analysis of the FLCN (aka BHD) gene for diagnosis of Birt-Hogg-Dube syndrome. Using genomic DNA obtained from buccal (cheek) swabs or blood (5cc in EDTA), the coding portion of the FLCN gene (exons 4-14) is obtained and analyzed using bi-directional sequencing. There is a mutational hotspot in exon 11 of the gene in a (Cytosine)8 tract, with 44% of patients found to have a deletion or insertion of a Cytosine nucleotide, causing a shift in reading frame. The remaining mutations occur throughout the coding sequence. Of patients diagnosed with BHD on a clinical basis, mutation in FLCN is expected to be identified in approximately 80% of cases.

Autosomal dominant primary spontaneous pneumothorax (PSP) has also been reported to be due to mutation in the FLCN gene in one large family. This family showed a frameshift mutation in exon 1 of the gene. The mutation was observed in all individuals with bullous lung changes, although not all family members with bullae had experienced a PSP. GeneDx will sequence the FLCN gene for patients with a diagnosis of PSP, particularly those with a family history suggesting autosomal dominant inheritance.

Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
Birt, Hogg, Dube, skin, fibrofolliculoma, kidney, kidney cancer, renal, renal cancer, lipoma, folliculin, BHD, FLCN, FLCL, pneumothorax, pneumo, lung, collapse, bleb, bullae, bullous

© 2000 - 2008 GeneDx, Inc. All rights reserved.