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Genetic Testing for Autosomal Dominant Hypercholesterolemia



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APOB-Targeted Genotyping Performed First

Slide 16

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.

APOB-Targeted Genotyping

 


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