BRCA1 Targeted Analysis (BRCAssure®)

CPT: 81215
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Test Details

Use

Once a mutation is identified in an index patient, family members can be tested for the presence of that specific mutation (single-amplicon testing by sequencing or deletion/duplication testing by multiplex ligation-dependent probe amplification [MLPA]). Please note, if additional amplicons are required for family testing by sequencing, the patient will be charged for each additional amplicon.

Limitations

Sequencing does not detect large deletions and duplications or other rearrangements; it may be affected by allele dropout if a rare polymorphism is present in the primer binding site.

Methodology

Sanger sequencing

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 Clinical Cancer 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
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
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
252235 BRCA1 Targeted Analysis 252283 Preauthorization N/A
252235 BRCA1 Targeted Analysis 252269 Extraction 8100-0
Reflex Table for Preauthorization
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252925 BRCA1 Targeted Sequencing 252228 Specimen Type 31208-2
Reflex Table for Preauthorization
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252925 BRCA1 Targeted Sequencing 252229 Result 21636-6
Reflex Table for Preauthorization
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252925 BRCA1 Targeted Sequencing 252238 Director Review 72486-4
Reflex Table for Preauthorization
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252925 BRCA1 Targeted Sequencing 252258 BRCA1 Seq LLS Tracking N/A
Reflex Table for Preauthorization
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252925 BRCA1 Targeted Sequencing 511936 PDF 80563-0

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