Understanding Lab Tests for Hyperlipoproteinemia Type III
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Hyperlipoproteinemia type III, also known as dysbetalipoproteinemia, is a rare genetic lipid disorder that causes abnormally high levels of cholesterol and triglycerides in the blood. This condition is primarily caused by specific genetic variations in the ApoE gene and requires specialized testing for accurate diagnosis.
Recommended Test
ApoE Genotype(11) (QSC)
This genetic test analyzes the ApoE gene to identify specific allele combinations that cause hyperlipoproteinemia type III. Having two copies of the ε2 allele is the primary genetic factor that leads to this disorder, characterized by elevated cholesterol and triglyceride levels. This test provides definitive genetic confirmation of the condition.
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Diagnosing Hyperlipoproteinemia Type III
Unlike common high cholesterol, hyperlipoproteinemia type III has a distinct genetic basis that can be identified through blood testing. The condition is strongly associated with having two copies of the ε2 allele of the ApoE gene, making genetic testing the primary diagnostic tool for confirming this disorder.
Understanding the Results
The ApoE genotype test identifies which variants of the ApoE gene you carry. While the ε2/ε2 genotype is necessary for hyperlipoproteinemia type III to develop, additional factors such as other genetic influences, diet, and lifestyle may also play a role in whether the condition manifests clinically.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. Always consult with a healthcare provider for diagnosis and treatment.
