Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Storage/Transport Temperature
For CHOP Phlebotomy: Samples can be collected throughout the week. Samples collected on weekends or holidays are held in Central Labs and sent to the Genomic Diagnostic Lab the following business day.
For External Clients: Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday, optimally within 24 hours of collection.
Please contact the lab (267-426-1447) with questions regarding non-blood specimens.
Volume Required
5 ml
Minimum Required
3ml
Phlebotomy Draw
Yes
Clinical Features
Birt-Hogg-Dube (BHD) is a hereditary cancer syndrome in which affected individuals are at risk for the development of cutaneous nodules (hair follicle fibrofolliculoma), pulmonary cysts, and bilateral, multifocal renal tumors. The tumors that occur in BHD patients may be chromophobe renal carcinoma, chromophobe/oncocytic hybrid, oncocytoma, or clear cell renal carcinoma.
Performing Lab
Division of Genomic Diagnostics
Performed
Mon - Fri 9:00am to 4:00pm
Reported
21 days
Detection Rate
Truncating variants (frameshift and nonsense variants) in the FLCN gene have been identified in 89% of patients with the disease. The analytical sensitivity is close to 100% for pathogenic variants by sequence analysis using WAVE/Surveyor analysis and DNA sequencing.
Utility
Molecular diagnosis of affected individuals allows pre-symptomatic screening of at risk family members and leads to early detection and timely intervention in the disease process.
Synonyms
FLCN, FLCNS
LIS Mnemonic
FLCNS
Available STAT
No
Test Notes
We offer DNA sequence analysis of the entire coding region of the FLCN gene. PCR amplification and sequence analysis is performed on all coding exons including splice junctions. The patient's gene sequence is then compared to a reference sequence. Sequence variants are classified as pathogenic or likely pathogenic variants, variants of unknown significance or benign variants unrelated to disease. Variants of unknown significance may warrant further studies in the patient and other family members. Variants in promoters, deep intronic regions and other regulatory regions will not be identified with this assay.
Molecular Testing Notes
The FLCN gene is located on chromosome 17p11.2. The inheritance pattern is autosomal dominant. Germline pathogenic variants in the folliculin (FLCN) gene have been shown to cause BHD. The FLCN gene appears to have the characteristics of a tumor suppressor gene, with loss of function resulting in the tumor formation.
CPT Codes
81479
Collection
Collect
Collect whole blood in a purple top (EDTA) tube.
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.
Storage/Transport Temperature
For CHOP Phlebotomy: Samples can be collected throughout the week. Samples collected on weekends or holidays are held in Central Labs and sent to the Genomic Diagnostic Lab the following business day.
For External Clients: Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday, optimally within 24 hours of collection.
Please contact the lab (267-426-1447) with questions regarding non-blood specimens.
Volume Required
5 ml
Minimum Required
3ml
Phlebotomy Draw
Yes
Ordering
Clinical Features
Birt-Hogg-Dube (BHD) is a hereditary cancer syndrome in which affected individuals are at risk for the development of cutaneous nodules (hair follicle fibrofolliculoma), pulmonary cysts, and bilateral, multifocal renal tumors. The tumors that occur in BHD patients may be chromophobe renal carcinoma, chromophobe/oncocytic hybrid, oncocytoma, or clear cell renal carcinoma.
Performing Lab
Division of Genomic Diagnostics
Performed
Mon - Fri 9:00am to 4:00pm
Reported
21 days
Detection Rate
Truncating variants (frameshift and nonsense variants) in the FLCN gene have been identified in 89% of patients with the disease. The analytical sensitivity is close to 100% for pathogenic variants by sequence analysis using WAVE/Surveyor analysis and DNA sequencing.
Utility
Molecular diagnosis of affected individuals allows pre-symptomatic screening of at risk family members and leads to early detection and timely intervention in the disease process.
Synonyms
FLCN, FLCNS
LIS Mnemonic
FLCNS
Available STAT
No
Test Notes
We offer DNA sequence analysis of the entire coding region of the FLCN gene. PCR amplification and sequence analysis is performed on all coding exons including splice junctions. The patient's gene sequence is then compared to a reference sequence. Sequence variants are classified as pathogenic or likely pathogenic variants, variants of unknown significance or benign variants unrelated to disease. Variants of unknown significance may warrant further studies in the patient and other family members. Variants in promoters, deep intronic regions and other regulatory regions will not be identified with this assay.
Molecular Testing Notes
The FLCN gene is located on chromosome 17p11.2. The inheritance pattern is autosomal dominant. Germline pathogenic variants in the folliculin (FLCN) gene have been shown to cause BHD. The FLCN gene appears to have the characteristics of a tumor suppressor gene, with loss of function resulting in the tumor formation.
