Genetic Testing for Autosomal Dominant Hypercholesterolemia
LDLR Gene
December 2008
The LDLR Gene is located on chromosome 19p and contains 18 exons, and is 45 kilobases in length. There have been over 500 mutations, most of them familial, reported across the gene and new mutations are described on a regular basis. Mutations can occur anywhere in the gene, but about 20% of all LDLR mutations occur in exon 4. Mutations have also been described in the transcription regulatory regions of the promoter of LDLR.
LDLR Gene |
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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