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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

Reporting Name

HOXB13 Mutation Analysis (G84E)

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


Patient Preparation: 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.

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


Specimen Minimum Volume

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.

Interpretation

An interpretive report will be provided.

Clinical Reference

1. Ewing CM, Ray AM, Lange EM, et al: Germline mutations in HOXB13 and prostate-cancer risk. N Engl J Med 2012;366:141-149

2. Xu J, Lange EM, Lu L, et al: HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG). Hum Genet 2013;132:5-14

Day(s) and Time(s) Performed

Performed weekly, varies

Analytic Time

10 days

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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HOXB HOXB13 Mutation Analysis (G84E) In Process

 

Result ID Test Result Name Result LOINC Value
53498 Result Summary 50397-9
53499 Result In Process
53500 Interpretation 69047-9
53501 Additional Information 48767-8
53502 Specimen 31208-2
53503 Source 31208-2
53504 Released By No LOINC Needed

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

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-inherited-molecular