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Test Code MISC2MAYOFLCNZ Birt-Hogg-Dube Syndrome, FLCN Full Gene Analysis, Varies

Useful For

Genetic diagnosis of Birt-Hogg-Dube syndrome for clinical management, risk assessment for related clinical symptoms, and genetic counseling for family members

Method Name

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing and Deletion Detection by Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reporting Name

FLCN Gene, Full Gene Analysis

Specimen Type

Varies


Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Additional Information: Specimen preferred to arrive within 96 hours of collection.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reject Due To

All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly, Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479-Unlisted molecular pathology procedure code

LOINC Code Information

Test ID Test Order Name Order LOINC Value
FLCNZ FLCN Gene, Full Gene Analysis 94232-6

 

Result ID Test Result Name Result LOINC Value
53908 Result Summary 50397-9
53909 Result 82939-0
53910 Interpretation 69047-9
53911 Additional Information 48767-8
53912 Specimen 31208-2
53913 Source 31208-2
53914 Released By 18771-6

Secondary ID

35425

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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519) in Special Instructions