Genetic Testing for Autosomal Dominant Hypercholesterolemia

Introduction

December 2008

Welcome to Mayo Medical Laboratories' Hot Topics. These presentations provide short discussions of current topics and may be helpful to you in your practice.

Our presenter for this program is Dr. Linnea Baudhuin, Co-Director of the Nucleotide Polymorphism Laboratory and Co-Director of Cardiovascular Laboratory Medicine, in the Division of Clinical Biochemistry and Immunology at Mayo Clinic. Dr. Baudhuin will be discussing the use of Mayo's recently introduced reflex panel for diagnosis of autosomal dominant hypercholesterolemia (ADH). Use of this genetic testing panel to identify the mutations in some of the various genes involved in ADH provides a cost-effective strategy for a definitive diagnosis of a genetic disease.

Introduction

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Jump to section:

• 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?