Laboratory Medicine Program

Birt-Hogg-Dube syndrome (FLCN)

Clinical Decription:
Birt-Hogg-Dube (BHD) syndrome is a rare hereditary condition that is characterized by one or more of the following features: renal cancer, spontaneous pneumothorax, lung cysts, cutaneous manifestations. BHD syndrome exhibits variable expression and reduced penetrance. Note: This is a blood test for individuals with clinical features and/or a family history of confirmed BHD syndrome. It is not a tumour test for somatic gene variants that provide information about diagnostics, prognostics or therapeutics.

Method: Next-Generation Sequencing (NGS)

Component Tests Used: n/a

Reference Ranges Used:
Reference ranges for this test are not available online. However, they are included in all test results. For more information, please call us.

Specimen Type: peripheral blood (EDTA)
Volume: 5 mL (minimum: 2 mL)

Shipping: room temperature or 4C

Special Instructions: See requisitions for the full list of available testing and special instructions.

Testing Schedule(s): Please call

Turnaround Time: None

For more information, call 416.340.5227 or 1.866.865.5227