This test is intended for evaluation of cardiovascular risk, not for evaluation of those suspected of having Alzheimer's disease.
5 - 7 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
0.5 mL (Note: This volume does not allow for repeat testing.)
Lavender-top (EDTA) tube (preferred) or yellow-top (ACD) tube
Maintain specimen at room temperature or refrigerate. Stable at room temperature for eight days.
Clotted whole blood samples (if adequate DNA not obtained); incorrect specimen type; frozen whole blood samples
Evaluate individuals with elevated cholesterol and triglycerides for the E2/E2 genotype associated with type III hyperlipoproteinemia. Aid in the diagnosis of hyperlipoproteinemia.
Polymerase chain reaction (PCR) with restriction enzyme digestion and polyacrylamide gel electrophoresis
Type III hyperlipoproteinemia (broad β disease) is a familial dyslipidemia characterized by the combination of elevated serum cholesterol and triglycerides and the presence of the apolipoprotein E (Apo E) genotype E2/E2. Type III hyperlipoproteinemia has an incidence of 1/2,000−1/10,000. This lipid disorder is associated with a high risk of coronary heart disease and peripheral vascular disease. Onset of type III hyperlipoproteinemia is generally in adulthood but varies from late teens to old age. Before vascular disease develops there are usually no symptoms, and most patients with type III hyperlipoproteinemia are identified only from elevated serum cholesterol and triglycerides discovered during a routine screen. Symptoms include angina, heart attack, claudication, and leg pain. In untreated patients, xanthomas (fat deposits) are occasionally seen (flat in palmar creases or tuberous in joints).
The E2 variant of apolipoprotein E is defective in binding to receptors that normally clear harmful lipid particles called B-VLDL from the circulation. One percent of the general population has the E2/E2 genotype, and development of the frank lipid disorder occurs in 1% to 5% of these predisposed individuals, triggered by secondary genetic, hormonal or environmental factors. Ninety-five percent of patients with type III hyperlipoproteinemia are homozygous for E2. Demonstration of the E2/E2 genotype is essential for diagnosis of type III hyperlipoproteinemia.
Distinguishing this disorder from other causes of elevated cholesterol is important because effective treatment of type III hyperlipoproteinemia to prevent atherosclerosis often requires a different approach than treatment of other dyslipidemias.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|503935||Apo E Genotyping: Cardio Risk||503937||APO E Genotyping Result:||21619-2|
|503935||Apo E Genotyping: Cardio Risk||503936||Methodology:||49549-9|
|503935||Apo E Genotyping: Cardio Risk||503938||Interpretation:||50398-7|
|503935||Apo E Genotyping: Cardio Risk||503939||Comment:||77202-0|
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