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Genetic Testing for Autosomal Dominant Hypercholesterolemia



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LDLR Sequence Mutation-Positive

Slide 19

December 2008

If a mutation in LDLR 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 81183 to investigate the same LDLR mutation in at-risk family members. Note that this test involves sequencing of only the LDLR exon involved in the family and thus is more cost-effective than full gene sequencing.

LDLR Sequence Mutation-Positive

 


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