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HelpTest 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
VariesShipping 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 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.
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 daysTest 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 | 82939-0 |
| 53500 | Interpretation | 69047-9 |
| 53501 | Additional Information | 48767-8 |
| 53502 | Specimen | 31208-2 |
| 53503 | Source | 31208-2 |
| 53504 | Released By | 18771-6 |
Special Instructions
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
mml-inherited-molecular