Familial Hypercholesterolemia/Autosomal Dominant Hypercholesterolemia Genetic Testing Reflex Panel
Method Description Describes how the test is performed and provides a method-specific reference
Direct mutation analysis for APOB R3500W and R3500Q is performed following PCR amplification and allele-specific, single-base primer extension. If the sample is positive, testing stops and a report is issued. If the sample is negative for a mutation, then LDLR full gene sequencing is performed. All 18 exons, splice junctions, and a portion of the promoter and 3'untranslated region (UTR) of the LDLR gene are amplified by PCR and then subjected to direct bidirectional DNA sequence analysis. If the sample is positive for an LDLR sequencing mutation, testing is stopped and a report is issued. If the sample is mutation negative by LDLR sequencing, then LDLR large deletion/duplication analysis is performed. Multiplex ligation-dependent probe amplification (a PCR-based method) is utilized. (Unpublished Mayo methods)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
2 months (extracted DNA only is saved)
Performing Laboratory Location The location of the laboratory that performs the test