Test Overview
Test Methodology

Targeted sequencing of the BRCA1 and BRCA2 genes is performed by amplifying the regions containing these founder mutations using specific primers, and bidirectionally sequencing them using a fluorescent method.

Test Usage

Three Ashkenazi Jewish founder mutations can be detected by this targeted sequencing assay: BRCA1 gene c.68_69delAG (BIC: 185delAG) and c.5266dupC (BIC: 5382insC) and one in BRCA2 c.5946delT (BIC: 6174delT). Note: MMGL will report out these mutations using the current Human Genome Variation Society (HGVS) naming guidelines instead of the previous nomenclature determined by Breast Cancer Information Core (BIC).

Reference Range *

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Limitations

This analysis will not identify mutations in the regulatory elements, deep intronic regions or coding regions of BRCA1 or BRCA2 that are not covered by this targeted test, and cannot detect mutations in other genes associated with hereditary breast and ovarian cancer. This assay may not detect large deletion or duplication mutations and balanced translocations involving BRCA1 or BRCA2 genes.

Test Details
Days Set Up
Monday - Friday
Analytic Time

10 - 28 days (most tests signed out within 10 days after insurance authorization is received).

Soft Order Code
BRAJ
MiChart Code
BRCA Ashkenazi Jewish Founder Mutations (MMGL)
Synonyms
  • BRAC2 gene c.5946delT (BIC: 6174delT)
  • Breast Cancer
  • BRCA1 gene c.68_69delAG (BIC: 185delAG)
  • BRCA1 gene c.5266dupC (BIC: 5382insC)
Laboratory
MMGL
Section
MMGL Molecular Genetics
Specimen Requirements
Collection Instructions

Collect blood specimen in a EDTA lavender top tube. Send it within 24 hours if stored at room temperature or within 5 days if stored refrigerated.

Fill out a MLabs Molecular test requisition (or place an e-order if applicable):
https://mlabs.umich.edu/media/166
Fill out a Clinical History Form for Insurance Prior Authorization (include all required documentation indicated at the bottom of this form):
https://mlabs.umich.edu/sites/default/files/2020-08/file/mlab11618clini…
Fill out a UMHS Request and Consent for Genetic Testing form:
https://mlabs.umich.edu/sites/default/files/2023-04/file/germline-conse…
Michigan State law requires the ordering provider to obtaining informed consent from the patient prior to prognostic or predictive genetic testing. Contact a MLabs Client Services Center at 800-862-7284 to request paper copies or to setup a client account.

Alternate Specimen
Cheek swab kit (Oragene OCD-100), follow collection instructions.
Saliva kit (Oragene OGD-510), follow collection instructions.
Normal Volume
5 mL whole blood
Minimum Volume
1 mL whole blood
Storage Temperature
Room temperature up to 24 hours or 2-8°C up to 5 days for blood
2-36°C for saliva
Rejection Criteria
Hemolyzed blood sample. Fresh tissue (POC) or paraffin embedded specimens are not acceptable.
Additional Information

Most insurance carriers require prior authorization for payment. BRCA testing will not begin until insurance prior authorization is received by the MMGL Laboratory or it has been confirmed that prior authorization is not required. It is the obligation of the ordering health care provider to obtain prior authorization before testing can begin. To obtain BCN prior authorization call Joint Venture Hospital Laboratories (JVHL) at 800-445-4979; for HAP refer to CareAffiliate via www.hap.org; for all others, contact the plan directly. By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.

Billing
CPT Code
81212
Fee Code
DA081
Pro Fee CPT
G0452-26
NY State Approved
No