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BRCAssure: BRCA1/2 Deletion/Duplication Analysis



May be used to detect the presence of a deletion or duplication in the BRCA1/2 genes after previous sequencing tests were negative and deletion/duplication analysis was not offered.

Test Details


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.


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

Specimen Requirements


Whole blood


7 mL

Minimum Volume

3 mL


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

Special Instructions

A BRCAssure clinical questionnaire should be submitted with specimens. Contact CMBP genetics services at 800-345-4363 to coordinate testing.

Causes for Rejection

Frozen whole blood, serum or marrow; leaking tube; clotted blood or marrow; grossly hemolyzed specimen; incorrect anticoagulant

Storage Instructions

Maintain specimen at room temperature.

Additional Information


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.



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