TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: PKLRG    
Pyruvate Kinase Liver and Red Blood Cell (PKLR), Full Gene Sequencing and Large Deletion Detection, Varies

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

Genomic DNA is extracted from whole blood. The PKLR gene is amplified by polymerase chain reaction (PCR). The PCR products are then purified and sequenced in both directions using fluorescent dye-terminator chemistry. Sequencing products are separated on an automated sequencer and trace files analyzed for variations in the exons and intron/exon boundaries of all exons using variant detection software and visual inspection.(Unpublished Mayo method)

 

Large Deletion Detection:

A single PCR product is amplified and separated by gel electrophoresis for fragment size detection.(Unpublished Mayo method)

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

No

Day(s) Performed Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Varies

Report Available The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

3 to 7 days

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

Whole Blood: 2 weeks; Extracted DNA: 2 months

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

Rochester