Test Code MISC2MAYOBHDZ 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 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: Green top (Sodium heparin)
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 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for samples received after 4 days and DNA yield will be evaluated to determine if testing may proceed.
2. 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.
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Collection Kit (T786)
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days
Additional information: Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.
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.
Secondary ID
614584Useful 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
Whole blood: 1 mL; Saliva: See Specimen Required
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.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.
Method Description
Next-generation sequencing (NGS) and/or Sanger sequencing are performed to test for the presence of variants in coding regions and intron/exon boundaries of the FLCN gene, as well as some other regions that have known pathogenic variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated at above 99% for single nucleotide variants, above 94% for deletions-insertions (delins) less than 40 base pairs (bp), above 95% for deletions up to 75 bp and insertions up to 47 bp. NGS and/or a polymerase chain reaction-based quantitative method is performed to test for the presence of deletions and duplications in the FLCN gene.
There may be regions of the FLCN gene that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. The reference transcript for FLCN gene is NM_144997.7. Reference transcript numbers may be updated due to transcript re-versioning. Always refer to the final patient report for gene transcript information referenced at the time of testing.(Unpublished Mayo method)
Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.
Day(s) Performed
Varies
Report Available
14 to 21 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterTest 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 |