Diagnostic Test Directory

Molecular Genetics Laboratory

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Familial Cylindromatosis (Familial Mutation only- CYLD)

  • Synonyms: Brooke-Spiegler syndrome (BSS), and multiple familial trichoepithelioma (MFT1)
  • LIS Mnemonic: MBCYLDPT

    Collect

    Collect whole blood in a purple top (EDTA) tube.

    Volume Required

    5ml

    Minimum Required

    3ml

    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

2-3 weeks

CPT

81479

Disease Information

Test Methods:

Sequence analysis of the mutation previously identified in a family member will be performed.

Results:

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

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215-590-5221