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Test ID HOXB HOXB13 Mutation Analysis (G84E)

Useful For

Determining whether the clinical phenotype of prostate cancer is due to the G84E mutation in the HOXB13 gene in the affected individual

                                      

Predictive testing and familial risk assessment when the G84E mutation in the HOXB13 gene has been identified in an affected family member

Method Name

Polymerase Chain Reaction (PCR)/DNA Sequencing

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name

HOXB13 Mutation Analysis (G84E)

Specimen Type

Varies

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.

Specimen Stability Information: Ambient (preferred)/Refrigerated/Frozen

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

Forms:

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

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

Specimen Minimum Volume

Blood: 1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Clinical Information

The HOXB13 gene is a homeobox transcription factor involved in normal prostate development and is a key determinant in response to androgens. Recently, a novel germline mutation in the HOXB13 gene, G84E, has been found to be associated with an up to 3- to 5-fold increased risk of prostate cancer. The G84E mutation has been shown to be overrepresented in the disease population, and carriers of the G84E mutation may develop prostate cancer at an earlier age than noncarriers. However, the G84E mutation has been seen in both family members with prostate cancer and in healthy relatives, indicating reduced penetrance. Also, in families carrying the G84E mutation, prostate cancer has been reported in nonmutation carriers.

Reference Values

An interpretive report will be provided.

Cautions

This assay will not detect all of the mutations that cause hereditary prostate cancer. Therefore, the absence of detectable mutations does not rule out the possibility of a hereditary form of prostate cancer. Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete. Rare polymorphisms exist that could lead to false-negative results.

 

A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.

Day(s) Performed

Performed weekly, varies

Report Available

10 days

Performing Laboratory

Mayo Medical 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-HOXB13 gene, Unlisted molecular pathology procedure

NY State Approved

Yes