If a familial mutation has been detected by sequencing or deletion/duplication studies, the Hereditary Cancer Single Site(s) (test code 93945) test may be considered. Official test results of the family member must be available for laboratory review.
For individuals of Ashkenazi (Eastern European) Jewish descent, consider performing the BRCA Ashkenazi Jewish Screen (test code 91864) first. Full sequencing may be considered if ancestry also includes non-Ashkenazi Jewish relatives or if other clinical criteria for hereditary breast and ovarian cancer syndrome are met. For this scenario, consider BRCA Ashkenazi Jewish Screen with Reflex to BRCA Panel (BRCA1, BRCA2 [test code 92140]).
If and individual is of Ashkenazi Jewish descent and the familial mutation is not 1 of the 3 Ashkenazi Jewish founder mutations, consider testing for both the founder mutations (BRCA Ashkenazi Jewish Screen [test code 91864]) and the familial mutation (Hereditary Cancer Single Site(s) [test code 93945]).
Additional tests, such as multigene tests, are available to assess the risk of hereditary breast cancer. For more information, please visit our website QuestHereditaryCancer.com. To discuss a family history with a Quest Diagnostics genetic counselor, please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463).