Birt-Hogg-Dube Syndrome (FLCN) Sequencing and Deletion/Duplication
Recommended test to confirm a clinical diagnosis or family history of Birt-Hogg-Dubé syndrome (BHDS).
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA) or yellow (ACD solution)
Transport 3 mL whole blood. (Min: 3 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush, or swab; FFPE tissue.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: 4 days; Refrigerated: 4 days; Frozen: Unacceptable
Massively Parallel Sequencing
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online
Laboratory Developed Test (LDT)
GENE TESTED: FLCN (NM_144997)
|Component Test Code*||Component Chart Name||LOINC|
- Hornstein-Knickenberg syndrome