Diagnostic Test Directory

Molecular Genetics Laboratory

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Birt-Hogg-Dube, BHD (FLCN Deletion/Duplication Analysis)

  • LIS Mnemonic: MBFLCNDEL

    Collect

    Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA is also an acceptable specimen.

    Volume Required

    5 ml whole blood or 1 ug DNA.

    Minimum Required

    3 ml

    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.

    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:

Large deletions and duplications will be detected using multiplex ligation-dependent probe amplification assay (MLPA).

Detection Rate:

Large deletions and duplications in the FLCN gene have been observed in ~5% of patients.

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