Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies
Use
The Birt-Hogg-Dube Syndrome (BHD) test evaluates patients with a personal or family history suggestive of BHD syndrome, assisting in the diagnosis and enabling targeted cancer surveillance. It identifies variants within genes associated with increased risk for BHD syndrome, allowing for predictive testing of at-risk family members.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all types of genomic variants, with potential for false-negative or -positive results. Certain gene regions may not be effectively evaluated due to technical limitations, including regions of homology, high GC content, and repetitive sequences. The test targets single and multi-exon deletions/duplications, but single exon resolution may be compromised in some instances. Balanced structural rearrangements may not be detected, and the test cannot differentiate between somatic and germline variants. If the patient has received an allogeneic transplant, results may be inaccurate.
New York Approved
Methodology
NGS
Biomarkers
No genes
Gene
LOINC Codes
- 94232-6 - FLCN gene Del+Dup + Full Mut Anl Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD); acceptable: Green top
Collection Instructions
1. Invert several times to mix blood. 2. Send whole blood specimen in original tube. Do not aliquot.
Storage Instructions
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.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |