Apolipoprotein E Mutation Detection for Cardiovascular Risk

Abbrev Code:ARMISC   
Order Code:LAB4909Order Name:Laboratory Miscellaneous Order
Methodology:Polymerase chain reaction/fluorescence monitoring
CPT Codes: 81401 x1
Turnaround Time:Specimens are sent to reference laboratory Mon-Sat; results are reported in 2-7 days.

For tests developed and validated by ARUP (previously referred to as Compliance Statement B, C or D). This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Collection Instructions

Optimal Volume:3 mL
Minimum\Peds Volume:1 mL
Container:Purple (EDTA)
Alternate Containers: Yellow (ACD, Solution A) tube available from laboratory
Causes for Rejection:Serum or plasma. Heparinized specimens. Frozen specimens in glass collection tubes.

Processing and Shipping

Specimen Processing:Aliquot 3 mL, 1 mL minimum whole blood. Store in refrigerator.
Shipping Instructions:Ship at refrigerated temperature.
Stability:72 hours at room temperature; 1 week refrigerated; 1 month frozen.
Test Performed at or Referral Lab Lab Sendouts  (ARUP)
Referral Lab number:2013337


Reference Range:Homozygous apo e3 (e3/e3): This genotype is the most common (normal) genotype.  

Background Information for Apolipoprotein E (APOE) Genotyping, Cardiovascular Risk
Characteristics: Hyperlipoproteinemia III (HPL III) is characterized by increased cholesterol and triglyceride levels, presence of B-VLDL, xanthomas, and premature vascular disease including coronary heart disease (CHD) and peripheral artery disease.
Incidence of HPL III: Approximately 1 in 5,000.
Inheritance of HPL III: Multifactorial; greater than 90 percent of affected individuals are homozygous for the e2 allele but other factors such as diabetes and hypothyroidism also play a large role in development of disease.
Penetrance: 1 to 5 percent of individuals homozygous for the e2 will develop HPL III.
Cause: 2 copies of the e2 allele provides supporting evidence for a diagnosis of HPL III in a symptomatic individual but e2 homozygosity is neither necessary nor sufficient for HPL III.
Variants Tested: APOE gene alleles, e2 (c.388T, p.130Cys and c.526C>T, p.Arg176Cys), e3 (c.388T, p.130Cys and c.526C, p.176Arg ), e4 (c.388T>C, p.Cys130Arg and c.526C, p.176Arg).
Clinical Sensitivity: 90 percent of individuals with HPL III are homozygous for the e2 variant.
Analytical Sensitivity and Specificity: 99 percent.
Counseling and informed consent are recommended for genetic testing. Consent forms are available from ARUP upon request or online at www.aruplab.com. This test is not recommended for non-symptomatic patients under 18 years of age.
Limitations:Only the e2, e3 and e4 variants will be detected. Rare isoforms of APOE will not be detected. If rare alleles are suspected, phenotyping by isoelectric focusing may be indicated. Diagnostic errors can occur due to rare sequence variations.

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