Table 4.
Class | Clinical Testing | Surveillance Recommendations if At-Risk Relative is Positive | Research Testing of Family Members |
---|---|---|---|
5 | Test at-risk relatives for variant | Full high-risk surveillance guidelines | Not indicated |
4 | Test at-risk relatives for variant* | Full high-risk surveillance guidelines | May be helpful to further classify variant |
3 | Do not use for predictive testing in at-risk relatives* | Based on family history (and other risk factors) | May be helpful to further classify variant |
2 | Do not use for predictive testing in at-risk relatives* | Treat as “no mutation detected” for this disorder | May be helpful to further classify variant |
1 | Do not use for predictive testing in at-risk relatives* | Treat as “no mutation detected” for this disorder | Not indicated |
Recommend continuing to test proband for any additional testing modalities available for the disorder in question, e.g. rearrangement testing.