If a familial mutation has been detected by sequencing or deletion/duplication studies, the Hereditary Cancer Single Site(s) test [test code 93945] may be considered. Official test results of the family member must be available for laboratory review.
If immunohistochemical (IHC) analysis of mismatch repair proteins has been performed on certain tumor types, and loss of protein(s) is identified, germline testing of the corresponding gene(s) may be appropriate.
If Lynch syndrome is suspected but the familial mutation is not known and IHC analysis has not been performed, then testing for all Lynch genes with a multigene panel may be considered. Quest offers several multigene panels that include all Lynch genes: the Lynch Syndrome Panel [test code 91461], the Guideline-based Hereditary Cancer Panel [test code 38611], and the Comprehensive Hereditary Cancer Panel [test code 38600].
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).