If you already had BRCA1/2 testing and the results were negative, it is important to consider which type of test you had.
In 1996, BRACAnalysis was launched by Myriad Labs and included sequencing of the BRCA1 and BRCA2 genes. Because sequencing does not detect unusual rearrangements in genes (such as large deletions or duplications), in 2002 the 5-site rearrangement panel was routinely added to BRACAnalysis to detect five recurring large rearrangements in BRCA1.
In 2006, the lab began offering BART (BRACAnalysis Large Rearrangement Test) as a standalone, full gene rearrangement test for both BRCA1 and BRCA2. The cost was $700 for BART and for a period of time many insurers did not cover it.
Since then, clinicians have ordered BART as a reflex test for selected higher risk cases, and BART has been performed automatically by the lab when a patient’s personal and family history indicates particularly high risk. Since January 2013, BART has been included in the majority of all BRACAnalysis tests and BART is covered by most insurers. This is now called “Integrated BRACAnalysis”.
Since the BART test can detect a few more percentage points of mutations, it is important to verify if the BART was done for you. If you had a positive result, it is unlikely that another mutation would be found so the BART addition would be less important.
As always, maintain an updated family history and be sure to consult your family doctor or genetic counselor.
For more information on the BRACAnalysis Large Rearrangement Test click this link.