What You Need to Know: Changes to Known/Familial Mutation Testing

On August 2, 2015, Mayo Medical Laboratories made changes to the ordering structure for our known mutation tests as part of the migration to our new SCC Soft genetics systems. As part of this change, a new orderable test, Familial Mutation, Targeted Testing (Test ID: FMTT), was implemented to consolidate 84 known mutation tests into a single orderable. A full list of the consolidated genes can be found in the accompanying PDF or the test catalog.

  • This test does not examine all 84 genes listed. Rather, the ordering organization will specify individual genes for testing.
  • Gene regions available are specimen type dependent and are detailed in the test catalog.
  • Familial mutation testing should be considered when:
    Click to view PDF Flier
    Click to view PDF Flier
    • A patient has at least one family member who has had positive genetic test results.
    • Documentation of previous genetic test results in the family are available.
  • Full gene sequencing tests should be considered when:
    • A patient identifies the first person in the family to be considered for genetics testing.
    • If there is no confirmed mutation or familial history

Our genetic counselors are available to discuss the specific test codes that would be recommended based on the suspected genetic condition in the patient. If you have additional questions regarding this change, please contact our customer support team at 800-533-1710 or mml@mayo.edu

brentwestra (@brentwestra)


Brent Westra is a Marketing Segment Manager at Mayo Clinic Laboratories. He leads marketing strategies for product management and specialty testing along with new media innovations. Brent has worked at Mayo Clinic since 2011.