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Genetic Testing for Autosomal Dominant Hypercholesterolemia


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LDLR Large Del/Dup Mutation-Positive

Slide 21

December 2008

If an LDLR large deletion/duplication mutation is identified, testing is stopped and an interpretive report is provided. Because a mutation has been identified in a patient, genetic counseling should be pursued. It may be important to consider ordering test number 89073 to investigate the possibility of the same LDLR mutation in at-risk family members.

LDLR Large Del/Dup Mutation-Positive


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