BRCA1/2 Deletion/Duplication Analysis (BRCAssure®)

CPT: 81213
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Test Details

Use

If no mutation or inconclusive results are reported after sequence analysis, testing for deletions or complex alleles in BRCA1 and/or BRCA2 may be considered.

Limitations

The MLPA will detect full BRCA1/BRCA2 gene deletions and multiple- and single-exon deletions and duplications. Balanced translocations are not detected by the method.

Methodology

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

Specimen Requirements

Specimen

Whole blood

Volume

7 mL

Minimum Volume

3 mL

Container

Lavender-top (EDTA) tube or yellow-top (ACD) tube

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

Clinical Information

Special Instructions

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

References

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
Janavičius R. Founder BRCA1/2 mutations in the Europe: Implications for hereditary breast-ovarian cancer prevention and control. EPMA J. 2010 Sep; 1(3):397-412. 23199084
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: www.nccn.org. 2010. Accessed May 29, 2013
Roy R, Chun J, Powell SN. BRCA1 and BRCA2: Different roles in a common pathway of genome protection. Nat Rev Cancer. 2011 Dec 23;12(1):68-78. 22193408
Tai YC, Domchek S, Parmigiani G, Chen S. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2007 Dec 5; 99(23):1811-1814. 18042939
Thompson D, Easton DF; Breast Cancer Linkage Consortium. Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002 Sep 18: 94(18): 1358-1365. 12237281
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

LOINC® Map

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 511936 PDF 80563-0

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