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HelpTest Code PKLRZ PKLR Full Gene Analysis, Varies
Ordering Guidance
Preliminary screening tests, such as complete blood cell count with peripheral smear, direct Coombs test, and pyruvate kinase enzyme activity assays (preferably as a part of EEEV1 / Red Blood Cell [RBC] Enzyme Evaluation, Blood) should be performed before ordering this test.
Targeted testing (also called site-specific or known variants testing) is available for variants identified in the PKLR gene. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
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 healthcare professionals are strongly encouraged to complete the form and send it with the specimen.
2. Include healthcare professional's name and phone number with specimen.
Specimen Required
Specimen Type: Whole blood
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
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: Ambient (preferred) 4 days/Refrigerated
Forms
1. PKLR Gene Sequencing Patient Information (T766) 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:
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
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
PKLR Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(3) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. van Wijk R, Huizinga E, van Wesel AC, et al. Fifteen novel mutations in PKLR associated with pyruvate (PK) deficiency: structural implications of amino acid substitutions in PK. Hum Mutat. 2009;30(3):446-453
2. Zanella A, Fermo E, Bianchi P, et al. Pyruvate kinase deficiency: the genotype-phenotype association. Blood Rev. 2007;21(4):217-231
3. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
4. OMIM: 609712 Pyruvate Kinase, Liver and Red Blood Cell; PKLR. Johns Hopkins University; 2005. Updated November 2022. Accessed January 6, 2023. Available at www.omim.org/entry/609712
5. Baronciani L, Beutler E. Molecular study of pyruvate deficient patients with hereditary nonspherocytic hemolytic anemia. J Clin Invest. 1995;95(4):1702-1709
6. Bianchi P, Zanella A. Hematologically important mutations: red cell pyruvate kinase (Third update). Blood Cells Mol Dis. 2000;26(3):47-53
7. Costa C, Albuisson J, Le TH, et al. Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase. Haematologica. 2005;90(1):25-30
8. So CC, Tang M, Li CH, et al. First reported case of prenatal diagnosis for pyruvate kinase deficiency in a Chinese family. Hematology. 2011;16(6):377-379
9. van Wijk R, van Solinge WW, Nerlov C, et al. Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency. Blood. 2003;101(4):1596-1062
Day(s) Performed
Varies
Report Available
28 to 42 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
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PKLRZ | PKLR Full Gene Analysis | 94212-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 618935 | Test Description | 62364-5 |
| 618936 | Specimen | 31208-2 |
| 618937 | Source | 31208-2 |
| 618938 | Result Summary | 50397-9 |
| 618939 | Result | 82939-0 |
| 618940 | Interpretation | 59465-5 |
| 618941 | Additional Results | 82939-0 |
| 621816 | Resources | 99622-3 |
| 621817 | Additional Information | 48767-8 |
| 621818 | Method | 85069-3 |
| 621819 | Genes Analyzed | 82939-0 |
| 621820 | Disclaimer | 62364-5 |
| 621821 | Released By | 18771-6 |