Genetic Testing for Autosomal Dominant Hypercholesterolemia

APOB-Targeted Genotyping Performed First

December 2008

If there is a clinical suspicion of ADH, test number 83375 should be ordered. Once the test is ordered and our clinical genetics molecular laboratory receives whole blood in an EDTA tube from the patient, we will extract the DNA and then perform the first component of the test, which is APOB genotyping for the two common APOB mutations.

As mentioned previously, APOD mutations account for about 15% of ADH. While LDLR mutations are more common than APOB mutations in ADH, targeted genotyping of APOB is more cost-effective than full gene sequencing of LDLR, which is why APOB analysis is performed initially in our reflex panel.

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APOB-Targeted Genotyping

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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?