Test Catalog

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

Specimen Type Describes the specimen type validated for testing


Ordering Guidance

Preliminary screening tests, such as complete blood count with peripheral smear, direct Coombs test, and pyruvate kinase (PK) enzyme activity assays (preferably as a part of EEEVP / Red Blood Cell [RBC] Enzyme Evaluation) should be run before ordering this evaluation.

Necessary Information

1. PKLR Gene Sequencing Patient Information is required, see Special Instructions. Testing may proceed without the patient information however it aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to complete the form and send it with the specimen.

2. Include physician name and phone number with specimen.

Specimen Required Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Submit only 1 of the following specimens:


Specimen Type: Whole blood

Container/Tube: Yellow top (ACD solution B) or Purple top (EDTA)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Refrigerated 30 days


Specimen Type: DNA

Container/Tube: 2 mL screw top tube

Specimen Volume: 100 microliters

Collection Instructions:

1. The preferred volume is 100 microliters at a concentration of 250 ng/mcL

2. Include concentration and volume on tube

Specimen Stability Information: Frozen preferred; Ambient/Refrigerate acceptable

Special Instructions Library of PDFs including pertinent information and forms related to the test


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. PKLR Gene Sequencing Patient Information is required, see Special Instructions

3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request Form (T755) with the specimen.

Specimen Minimum Volume Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Whole blood: 0.5 mL

Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen TypeTemperatureTimeSpecial Container