Interpretation of Test Results

Approximately 95% to 99% of individuals with a WS phe-notype have complete deletion of the ELN gene, and a FISH assay with the ELN gene probe will detect all of these cases.

FISH analysis will not detect the ELN mutations that are commonly found in nonsyndromic SVAS; thus, the specificity for the test with respect to WS is very high. Nevertheless, it is possible that a rare ELN deletion in an individual with SVAS but without WS may be detected by FISH. As in all genetic disorders, the laboratory result must be interpreted in the context of the individual's complete clinical presentation. Conversely, a negative result should suggest reevaluation of the clinical diagnosis of WS.

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