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GENOMICS-BASICS5 MIN READ

Sort Test Limitations Before You Promise Value

Classify common genetic testing limitations by risk type.

Sort each limitation by the risk type it mainly represents. Analytic scope Interpretive uncertainty Clinical utility Equity and applicability The panel does not detect repeat expansions Low coverage in one exon means a variant there could be missed The lab reports a VUS with insufficient evidence for action Different databases show conflicting classifications A result is valid, but there is no proven screening or treatment change for this context The result would not change management because standard screening is already indicated The score was validated mostly in European ancestry cohorts Follow-up counseling is not available in the language the family…

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