Reference Interval:
R3500Q Negative: This patient is negative for the R3500Q (G9775A) mutation.
R3500W Negative: This patient is negative for the R3500W (C9774T) mutation.
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| Interpretive Data: |
Familial defective apo B-100 (FDB) is an autosomal dominant disorder caused by mutations in the apo B gene that prevents the apo B-LDL complex from binding to the LDL receptor. 15% of familial hypercholesterolemia is due to this ligand-defective apolipoprotein B-100. The most common mutation, Arg3500Gln, has a frequency of 1/500-1/700 in Caucasian populations of North America and Europe. The rare Arg3500Trp mutation originally described in the Scottish population also has been identified in FDB of Asian descent (approximately 2% of FDB patients). Heterozygous carriers of an apo B mutation have an increased risk for coronary artery disease, although with a reduced penetrance. 40% of males and 20% of females heterozygous for these mutations develop coronary artery disease. Homozygotes or compound heterozygotes for R3500Q/R3500W are at greater risk for disease.
Mutations in other genes or other mutations in the apo B gene that may cause familial hypercholesterolemia or increased risk for coronary artery disease are not ruled out.
Patient DNA is assayed for Arg3500Gln and Arg3500Trp mutations in the apo B gene by polymerase chain reaction (PCR) and fluorescence monitoring using hybridization probes. Sensitivity and specificity for detection of this mutation are 99.9%.
This test is not recommended for nonsymptomatic patients under 18 years of age.
Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
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| Note: |
For a complete description of the Reference Interval, please refer to ARUP's Guide to Clinical Laboratory Testing, which can be found on our Web site at www.aruplab.com.
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| CPT Code(s): |
83890 Isolation; 83898 Amplification; 83896 x2 Nucleic acid probes; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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