Table 4.

Testing Recommendations Associated with Each Class of Variant

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.