Ordering Recommendation

Recommended test to confirm a clinical diagnosis or family history of Birt-Hogg-Dubé syndrome (BHDS).

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA) or yellow (ACD solution)

Specimen Preparation

Transport 3 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush, or swab; FFPE tissue.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: 4 days; Refrigerated: 4 days; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-15 days

Reference Interval

By report

Interpretive Data

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

Compliance Category

Laboratory Developed Test (LDT)

Note

GENE TESTED: FLCN (NM_144997)

Hotline History

N/A

CPT Codes

81479

Components

Component Test Code* Component Chart Name LOINC
3005704 FLCN Specimen 31208-2
3005706 FLCN Interp 57963-1
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • BHDS
  • Hornstein-Knickenberg syndrome
Birt-Hogg-Dube Syndrome (FLCN) Sequencing and Deletion/Duplication