Genetic Testing for Autosomal Dominant Hypercholesterolemia

Conclusion

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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Jump to section:

• Introduction
• Autosomal Dominant Hypercholesterolemia
• Autosomal Dominant Hypercholesterolemia
• Autosomal Dominant Hypercholesterolemia
• Familial Hypercholesterolemia
• FH-Primary Defect in LDLR
• LDLR Gene
• LDLR Gene
• Familial Defective ApoB-100
• How is ADH Diagnosed?
• Impact of Failure to Diagnose
• Why is Genetic Testing for ADH Useful?
• Statin Treatment-How Early?
• ADH-Genetic Testing Methodology
• Familial/Autosomal Dominant Hypercholesterolemia Diagnostic Algorithm
• APOB-Targeted Genotyping Performed First
• APOB Mutation-Positive
• APOB Mutation-Negative
• LDLR Sequence Mutation-Positive
• LDLR Sequence Mutation-Negative
• LDLR Large Del/Dup Mutation-Positive
• LDLR Large Del/Dup Mutation-Negative
• Summary
• Conclusion
• Questions?