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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 Variant, 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. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

Specimen Type: Whole blood

Container/Tube:

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

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.


Forms

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

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the FLCN gene associated with Birt-Hogg-Dube (BHD) syndrome. See Method Description for additional details.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for BHD syndrome.

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

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Germline variants in the FLCN gene are associated with Birt-Hogg-Dube (BHD) syndrome. BHD syndrome is characterized by cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. BHD syndrome is inherited in an autosomal dominant manner and the penetrance is considered to be very high.(1-6)

 

While there is no consensus on clinical surveillance of BHD syndrome, many recommendations have been put forth for the individual manifestations of the condition by different groups, such as the National Cancer Institute.(4-6)

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(7) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Sattler EC, Steinlein OK: Birt-Hogg-Dube syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews. [Internet]. University of Washington, Seattle; 2006. Updated January 30, 2020. Accessed April 26, 2024. Available at: www.ncbi.nlm.nih.gov/books/NBK1522/

2. Houweling AC, Gijezen LM, Joneker MA, et al. Renal cancer and pneumothorax risk in Birt-Hogg-Dube syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. Br J Cancer. 2011;105(12):1912-1919

3. Schmidt LS, Nickerson ML, Warren MB, et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube Syndrome. Am J Hum Genet. 2005;76(6):1023-1033

4. Stamatakis L, Metwalli AR, Middelton LA, Linehan WM. Diagnosis and management of BHD-associated kidney cancer. Fam Cancer. 2013;12(3):397-402

5. Farrant PBJ, Emerson R: Letter. hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome. Dermatol Surg. 2007;33(10):1287-1288

6. Kim D, Wysong A, Teng JM, Rahman Z. Laser-assisted delivery of topical rapamycin: mTOR inhibition for Birt-Hogg-Dube syndrome. Dermatol Surg. 2019;45(12):1713-1715

7. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424

Day(s) Performed

Varies

Report Available

14 to 21 days

Test Classification

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

CPT Code Information

81479

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
Mayo Clinic Laboratories | Genetics and Genomics Additional Information:

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