Targeted sequencing for specific familial or known mutations on the BRCA1 gene.
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.
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.
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.