BRCA1/2 Ashkenazi Jewish Profile (BRCAssure®)

CPT: 81212
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Test Details

Use

To screen for three founder mutations in BRCA1 (c.68_69delAG and c.5266dupC) and BRCA2 (c.5946delT) genes in Ashkenazi Jewish population. These mutations are also known by their previous nomenlcature, namely 187delAG and 5382insC for the BRCA1 and 6174delT for the BRCA2 gene.

Limitations

Sequencing does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; deep intronic variants; it may be affected by allele-dropout; it may not allow determination of the exact numbers of T/A or microsatellite repeats; and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

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 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
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
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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
252970 BRCAssure Ashkenazi Panel 252971 Preauthorization N/A
252970 BRCAssure Ashkenazi Panel 252269 Extraction 8100-0
Reflex Table for Preauthorization
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252975 BRCA Ashkenazi Jewish Panel 252972 Specimen Type 31208-2
Reflex Table for Preauthorization
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252975 BRCA Ashkenazi Jewish Panel 252974 Result 50995-0
Reflex Table for Preauthorization
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252975 BRCA Ashkenazi Jewish Panel 252976 Director Review 72486-4
Reflex Table for Preauthorization
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252975 BRCA Ashkenazi Jewish Panel 511936 PDF 80563-0
Reflex Table for Preauthorization
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 252975 BRCA Ashkenazi Jewish Panel 252977 BRCAssure LLS Tracking N/A

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The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf