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.
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
Lavender-top (EDTA) tube or yellow-top (ACD) tube
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
Maintain specimen at room temperature.
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.