Genetic Testing for Autosomal Dominant Hypercholesterolemia
LDLR Large Del/Dup Mutation-Negative
December 2008
If an LDLR large deletion/duplication mutation is not identified, testing is stopped and an interpretive report is provided.
LDLR Large Del/Dup Mutation-Negative |
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?
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