BRCA1/2 Deletion/Duplication Analysis (BRCAssure®)

CPT: 81164
Updated on 8/15/2019
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Special Instructions

A Hereditary Cancer Clinical Questionnaire should be submitted with specimens. Contact CMBP genetics services at 800-345-4363 to coordinate testing.

Expected Turnaround Time

10 - 28 days

Specimen Requirements


Whole blood, saliva collected in an Oragene Dx collection kit


7 mL whole blood, 2 mL saliva

Minimum Volume

3 mL whole blood, 0.5 mL saliva


Lavender-top (EDTA) tube or yellow-top (ACD) tube or Oragene Dx 500 saliva collection kit.

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Frozen whole blood, serum, or marrow; leaking tube; clotted blood or marrow; grossly hemolyzed specimen; incorrect anticoagulant; saliva collection in an incorrect container. Do not eat, drink, smoke, or chew gum 30 minutes prior to saliva sample collection. See Oragene Dx 500 saliva kit for detailed instructions.

Test Details


This test code should be used when an individual has had previous sequence analysis of the BRCA1 and BRCA2 genes but did not have previous testing for large deletions or duplications of the BRCA1 and/or BRCA2 genes. It may also be used for those individuals who have a known familial variant that is a large deletion or duplication. If ordering for familial analysis, a copy of the positive family member’s report or genetic counseling letter is requested for documentation of the familial variant.


Copy number variations are assessed by multiple-ligation-probe amplification assay (MLPA) to detect gross deletions and duplications. Copy number analyses are designed to detect single exon, multi-exon, and full gene deletions or duplications. These analyses may not detect certain genomic rearrangements, such as mosaic variants, translocations (balanced or unbalanced), inversions, or some partial exon rearrangements. This assay cannot determine exact breakpoints of deletions or duplications detected.

This test is not intended to detect somatic variants. Bone marrow transplantation may affect the outcome of these results. Please contact LabCorp at 1-800-345-GENE to discuss testing options.

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).


Comprehensive deletion/duplication testing for BRCA1/BRCA2 is performed by using the multiple ligation probe amplification (MLPA) platform


American Society of Clinical Oncology. American Society of Clinical Oncology Policy Statement Update: Genetic testing for cancer susceptibility. J Clin Oncol. 2003 Jun 15;21(12):2397-2406.12692171
Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet. 2003 May;72(5):1117-1130.12677558
Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr 10;25(11):1329-1333.17416853
Engert S, Wappenschmidt B, Betz B, et al. MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: Novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases. Hum Mutat. 2008 Jul;29(7):948-958.18431737
Ferla R, Calò V, Cascio S, et al. Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol. 2007 Jun;18(Suppl 6):vi93-vi98.17591843
Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998 Mar;62(3):676-689.9497246
Herman S, Varga D, Deissler HL, Kreienberg R, Deissler H. Medium-sized deletion in the BRCA1 gene: Limitations of Sanger sequencing and MLPA analyses. Genet Mol Biol. 2012 Jan;35(1):53-56.22481874
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Kote-Jarai Z, Leongamornlert D, Saunders E, et al. BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: Implications for genetic testing in prostate cancer patients. Br J Cancer. 2011 Oct 11;105(8):1230-1234.21952622
National Comprehensive Cancer Network. Clinical practice guidelines in oncology, genetic/familial high-risk assessment: breast and ovarian. Available at:
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Tulinius H, Olafsdottir GH, Sigvaldason H, et al. The effect of a single BRCA2 mutation on cancer in Iceland. J Med Genet. 2002 Jul;39(7):457-462.12114473


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
252888 BRCA Deletion/Duplication Test 252895 Preauthorization N/A
252888 BRCA Deletion/Duplication Test 252269 Extraction 8100-0
Reflex Table for Preauthorization
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252920 BRCA1/2 Deletion/Duplication 252889 Specimen Type 31208-2
Reflex Table for Preauthorization
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252920 BRCA1/2 Deletion/Duplication 252891 Result 50995-0
Reflex Table for Preauthorization
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252920 BRCA1/2 Deletion/Duplication 252902 Director Review 72486-4
Reflex Table for Preauthorization
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252920 BRCA1/2 Deletion/Duplication 512123 PDF 80563-0

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