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HelpTest ID PKLRG Pyruvate Kinase Liver and Red Blood Cell (PKLR), Full Gene Sequencing and Large Deletion Detection, Varies
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 EEEV1 / Red Blood Cell [RBC] Enzyme Evaluation, Blood) should be run before ordering this evaluation.
Necessary Information
1. PKLR Gene Sequencing Patient Information is required. 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
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Yellow top (ACD solution B) or lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
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
Forms
1. PKLR Gene Sequencing Patient Information is required
2. 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)
3. If not ordering electronically, complete, print, and send a Benign Hematology Test Request Form (T755) with the specimen.
Useful For
Aiding in the diagnosis of pyruvate kinase (PK) deficiency
Ascertaining a causative variant in the PKLR gene of patients with low or relatively low levels of erythrocytic PK enzymatic activity
Ascertaining carrier status of family members of individuals diagnosed with PK deficiency for genetic counseling purposes
Special Instructions
Method Name
Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis/Large Deletion Detection by PCR followed by Fragment Analysis
Reporting Name
PKLR Full Gene and DeletionSpecimen Type
VariesSpecimen Minimum Volume
Whole blood: 0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Varies | |
Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
10 to 21 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81405
81479
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PKLRG | PKLR Full Gene and Deletion | 94212-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 37857 | Result Summary | 50397-9 |
| 48398 | Result Details | 82939-0 |
| 37858 | Interpretation | 69047-9 |
| 48397 | Method | 85069-3 |
| 48396 | Disclaimer | 62364-5 |
| 37860 | Reviewed by | 18771-6 |
| 91971 | Additional Information | 48767-8 |