FLCN Sequencing and Deletion/Duplication
Also known as: Inherited Cancer, Renal Cancer, Primary spontaneous pneumothorax, Bert hog dube syndrome, Birt-Hogg-Dube syndrome
Use
This test is used to identify individuals with Birt‑Hogg‑Dubé (BHD) syndrome by detecting single‑nucleotide variants, deletions, and duplications in the FLCN gene. Testing may be indicated for individuals presenting with either one major clinical feature or two or more minor features of BHD syndrome, including fibrofolliculomas, lung cysts, early-onset or specific types of renal cancer, or a first‑degree relative with BHD syndrome. This serves to aid in diagnosis and guide clinical management and genetic counseling.
Special Instructions
Informed consent following genetic counseling is strongly recommended. If a familial mutation is already known, a single‑site test (test code 93945) may be appropriate. Quest will verify insurance coverage and notify providers or patients if estimated out-of-pocket costs exceed $100. Orders must include a complete family history form and be fully completed to avoid processing delays.
Limitations
A negative result does not rule out BHD syndrome; clinical diagnostic criteria should still be considered. Variant classification may change with new evidence—providers are advised to check variant updates annually. A variant of uncertain significance (VUS) indicates uncertain clinical significance, and family studies may aid interpretation. The test does not diagnose cancer directly upon detecting a pathogenic or likely pathogenic variant; risk information is provided in the report.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Not provided.