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Genetic Testing for Autosomal Dominant Hypercholesterolemia


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Slide 24

December 2008

In conclusion, the FH/ADH Genetic Reflex Panel that Mayo offers is comprehensive in that it involves testing for common mutations in APOB, sequencing of all exons and the promoter of LDLR to identify point mutations and small insertion/deletion mutations, and gene dosage analysis of LDLR for large deletion/duplication mutations.

In addition, Mayo’s FH/ADH Genetic Reflex Panel was designed to be more cost-effective than ordering all 3 tests at the same time.



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