Diagnostic Test Directory

Molecular Genetics Laboratory

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Birt-Hogg-Dube, BHD (FLCN Mutation Screen)

  • LIS Mnemonic: MBBHDSCRN

    Collect

    Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA (accepted).

    Volume Required

    5 ml whole blood or 3 ug DNA

    Minimum Required

    3 ml whole blood

    Transport

    Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.

    Stability

    Whole blood can be refrigerated until shipment.

    Processing

    No processing

    Unacceptable conditions

    Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.

    Specimen Handling

    Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.

Days Performed

Mon - Fri 9:00am to 4:00pm

Reported

4-6 weeks

CPT

81479

Disease Information

Clinical Features:

Birt-Hogg-Dube (BHD) is a hereditary cancer syndrome in which affected individuals are at risk for the development of cutaneous nodules (hair follicle fibrofolliculoma), pulmonary cysts, and bilateral, multifocal renal tumors. The tumors that occur in BHD patients may be chromophobe renal carcinoma, chromophobe/oncocytic hybrid, oncocytoma, or clear cell renal carcinoma.

Molecular Genetics:

The FLCN gene is located on chromosome 17p11.2. The inheritance pattern is autosomal dominant. Mutations in the folliculin (FLCN) gene have been shown to cause BHD. The FLCN gene appears to have the characteristics of a tumor suppressor gene, with loss of function resulting in the tumor formation.

Test Methods:

We offer scanning for point mutations by dHPLC (WAVE) and Surveyor endonuclease (Transgenomic, Inc.) followed by DNA sequence analysis of exons exhibiting cleavage. Sequence variants are classified as mutations, variants of unknown significance or benign variants unrelated to disease. Variants of unknown significance may warrant further studies in the patient and other family members.

Detection Rate:

Truncating point mutations (frameshift and nonsense mutations) in the FLCN gene have been identified in 89% of patients with the disease. The analytical sensitivity is close to 100% for point mutations by mutation scanning using WAVE/Surveyor analysis and DNA sequencing.

Related Tests:

Known point mutation analysis is available to family members for mutations previously identified by sequence analysis. We offer the following tests related to Renal Cell Carcinoma: Hereditary leiomyomatosis and renal carcinoma- FH Gene Sequencing and Deletion Analysis Hereditary papillary renal carcinoma – MET proto-oncogene (Sequencing of exons 16-19) Von-Hippel-Lindau Disease – VHL Gene Sequencing and Deletion Analysis

Results:

Test results with interpretation will be mailed and/or faxed to the referring physician or send out lab following completion of the test. Additional reports will be provided as requested.

Utility:

Molecular diagnosis of affected individuals allows pre-symptomatic screening of at risk family members and leads to early detection and timely intervention in the disease process.

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215-590-5221