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BRCA Mutations

Item Value
Test Update Information Effective July 1, 2012, BRCA mutation testing is no longer performed in the UCSF Clinical Labs. All test requests will be sent to Myriad Genetics Laboratory
Approval req'd? No
Available Stat? No
Utilization Guidelines Tests with long turn-around times (ie. Molecular based tests and Microarrays) should only be requested on an inpatient if the result is going to affect the inpatient management.

If the patient will likely be discharged before the result will be available, the test should be requested after discharge. (NOTE: UCSF Medical Center is not reimbursed for inpatient testing).

An exception to the above may be appropriate if there is a possibility the patient will not survive to be discharged and the information is important for diagnosis and/or family decisions/management (ie. recurrence risk).
Test code MOLT (Order in Apex as 'Miscellaneous Outside Lab Test' using the complete test name above)
Performed by Myriad Genetics
Sendout? Yes
Method PCR and allele-specific probes
Collection Instructions Specimens for this assay are accepted only through the Cancer Center Genetic Counseling Program at UCSF/Mount Zion. All patients must receive genetic counseling prior to testing. The name of the genetic counselor who provided counseling must be included with the request. For counseling contact Beth Crawford at 885-7779 or 475-7779.

If collecting in citrate, check the expiration date on the label of the blue top vacutainer before drawing the patient

Complete and submit a Myriad genetics request form with sample. Click here for form
Container type Lavender top
Amount to Collect 3 mL blood
Sample type EDTA whole blood, CVS, Tissue Culture
Preferred volume 3 mL blood
Min. Volume 0.1 mL blood
UCSF Rejection Criteria Samples collected in outdated blue top vacutainer.
Processing notes Do not centrifuge the specimen. Store at room temperature. Refrigerated samples are acceptable.
Normal range No Mutation Detected
Synonyms PCR; Breast cancer; Del185 mutation; BRCA1; BRCA2
Turn around times 7-9 days
Additional information This assay will detect the three most common mutations associated with a family history of early onset carcinoma of the breast. The carrier frequency for these mutations in Ashkenazi (east European) Jews is:

Del185 (BRCA-1 gene) 1.1%
5382insC (BRCA-1 gene) 0.13%
6174delT (BRCA-2 gene) 1.5%

NOTE: The results for this test are not entered into the computer and will not be available in APEX for patient confidentiality reasons. All BRCA results are referred to Beth Crawford in Genetics and must be obtained from her at 885-7779 (or pager 443-6656).

Reported as "No Mutation Detected", "Heterozygous for Mutation" or "Homozygous for Mutation"

This test was developed and its performance characteristics determined by the Clinical Laboratories at the Medical Center at UC San Francisco. It has not been cleared or approved by the U.S. Food and Drug Administration.
LOINC code 50995-0
Last Updated 2/20/2014 3:01:41 PM
Entry Number 142
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