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Test ID BHDZ Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies

Ordering Guidance

For a comprehensive hereditary renal cancer gene panel that includes testing for FLCN, consider RENCP / Hereditary Renal Cancer Panel, Varies.


Testing for the FLCN gene as part of a customized panel is available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.


Targeted testing for familial variants (also called site-specific or known mutations testing) is available for this gene. For more information see FMTT / Familial Mutation, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood


Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics: Inherited Cancer Syndromes Patient Information Sheet (T519)

3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.

Useful For

Evaluating patients with a personal or family history suggestive of Birt-Hogg-Dube (BHD) syndrome


Establishing a diagnosis of BHD syndrome allowing for targeted cancer surveillance based on associated risks


Identifying variants within genes known to be associated with increased risk for BHD syndrome allowing for predictive testing of at-risk family members

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

FLCN Full Gene Analysis

Specimen Type


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) Performed


Report Available

21 to 28 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
BHDZ FLCN Full Gene Analysis 94232-6


Result ID Test Result Name Result LOINC Value
614635 Test Description 62364-5
614636 Specimen 31208-2
614637 Source 31208-2
614638 Result Summary 50397-9
614639 Result 82939-0
614640 Interpretation 69047-9
614641 Resources 99622-3
614642 Additional Information 48767-8
614643 Method 85069-3
614644 Genes Analyzed 48018-6
614645 Disclaimer 62364-5
614646 Released By 18771-6