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HelpTest Code 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
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
FLCN Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
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 daysPerforming 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. 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 |