Apo E Genotype

Cleveland HeartLab A, Genetics, Test

NEW YORK DOH APPROVED: NO
CPT Code: 81401
Order Code: C604
ABN Requirement:  
Yes
Synonyms: Apo E; Apolipoprotein E Genotype; APOE; APOE Genotype
Specimen: EDTA Whole Blood
Volume: 1.0 mL
Minimum Volume: 0.5 mL
Container: EDTA (Lavender Top tube)

Collection:

  1. Collect and label sample according to standard protocols.
  2. Gently invert tube 8-10 times immediately after draw. DO NOT SHAKE.
  3. Do not centrifuge.

Special Instructions: Please provide a separate specimen tube for molecular testing.

Transport: Store EDTA whole blood at 2°C to 8°C after collection and ship the same day per packaging instructions provided with the Cleveland HeartLab, Inc. shipping box.

Stability:

Ambient (15-25°C): not acceptable
Refrigerated (2-8°C): 7 days
Frozen (-20°C): 1 year
Deep Frozen (-70°C): 1 year

Causes for Rejection: Specimens other than EDTA whole blood; improper labeling; samples not handled and stored properly; samples older than stability limits.

Methodology: Polymerase Chain Reaction (PCR)

Turn Around Time: 3 to 8 days

Reference Range with Interpretations:
See individual reports.

Intended UseThe ApoE genotype is informative in individuals with premature CHD or a family history of premature CHD. In addition, it can be ordered for individuals with elevated cholesterol and triglyceride levels, in particular those who do not respond to lifestyle changes such as diet and exercise, and individuals resistant to treatment with statins. Finally, it can be diagnostic for individuals suspected of having type III hyperlipoproteinemia

Limitations: Rare isoforms of APOE will not be detected. If rare alleles are suspected, phenotyping by isoelectric focusing may be indicated. Rare diagnostic errors can occur due to primer site mutations.

References:

Bennet, A.M., Di Angelantonio, E., Ye, Z., Wensley, F., Dahlin, A., Ahlbom, A., Keavney, B., Collins, R., Wiman, B., de Faire, U. Danesh, J.  JAMA.  2007.  298:  1300 – 1311.

Breslow, J.L., Zannis, V.I., SanGiacomo, T.R., Third, J.L.H.C., Tracy, T., and Glueck, C.J.  J. Lipid. Res.  1982.  23: 1224 – 1235.

Eichner, J.E., Dunn, S.T., Perveen, G., Thompson, D.M., Stewart, K.E., and Stroehla, B.C.  Am. J. Epidemiol.  2002.  155: 487 – 495.

Mahley, R.W., Huang, Y., and Rall Jr., S.C.  J. Lipid Res.  1999.  40: 1933 – 1949.

Menzel, H.J., Kladetzky, R.G., and Assmann, G.  Arteriosclerosis.  1983.  3: 310 – 315.