APOB - Overview: Apolipoprotein B-100 Molecular Analysis, R3500Q and R3500W

Test Catalog

Test ID: APOB    
Apolipoprotein B-100 Molecular Analysis, R3500Q and R3500W

Useful For Suggests clinical disorders or settings where the test may be helpful

Aiding in the diagnosis of familial defective apolipoprotein B-100 in individuals with elevated untreated LDL cholesterol concentrations


Distinguishing the diagnosis of familial defective apolipoprotein B-100 from other causes of hyperlipidemia, such as familial hypercholesterolemia and familial combined hyperlipidemia


Comprehensive genetic analysis for hypercholesterolemic individuals who test negative for a variant in the LDLR gene by sequencing (LDLRS / Familial Hypercholesterolemia, LDLR Full Gene Sequencing) and/or gene dosage (LDLM / Familial Hypercholesterolemia, LDLR Large Deletion/Duplication, Molecular Analysis)

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

This assay is a genetic test for the APOB gene and will not provide an apolipoprotein B measurement. If apolipoprotein B analysis is desired, see APLB / Apolipoprotein B, Plasma.

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.


Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Amplification with Allele-Specific Primer Extension (ASPE)

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

APOB Genotype

Aliases Lists additional common names for a test, as an aid in searching

Familial Defective APOB-100
Familial Hypercholesterolemia (FH)