Genetic Testing for Autosomal Dominant Hypercholesterolemia

LDLR Sequence Mutation-Positive

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.

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LDLR Sequence Mutation-Positive

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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?