TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
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Test ID: FHRGP    
Familial Hypercholesterolemia and Related Disorders Multi-Gene Panel, Next-Generation Sequencing, Varies

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Method Description Describes how the test is performed and provides a method-specific reference

Next-generation sequencing (NGS) is performed using an Illumina instrument with paired-end reads. The DNA is prepared for NGS using a custom Agilent SureSelect Target Enrichment System. Data is analyzed with a bioinformatics software pipeline for sequence variants and the presence of large intragenic deletions and duplications. Supplemental Sanger sequencing or qPCR may be performed occasionally in regions where NGS is insufficient for data capture or not specific enough to correctly identify a variant. Sanger sequencing or qPCR may also be used for confirmatory testing.(Unpublished Mayo method)

 

The following genes are evaluated in this multi-gene panel, ABCG5, ABCG8, APOB, LDLR, LDLRAP1, and PCSK9.

PDF Report Indicates whether the report includes an additional document with charts, images or other enriched information

No

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.

Monday; Varies

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.

2 weeks

Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Clinic Laboratories until the release of the test result

4 weeks

Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

2 months

Performing Laboratory Location Indicates the location of the laboratory that performs the test

Rochester