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BRCAssure: BRCA2 Targeted Analysis

CPT:

81217

Targeted sequencing for specific familial or known mutations on the BRCA2 gene.

 

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.

 

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

 

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

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.

 

Patient?

Patient?

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