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Pyruvate Kinase Liver and Red Blood Cell (PKLR) Full Gene … see more Pyruvate Kinase Liver and Red Blood Cell (PKLR) Full Gene Sequencing and Large Deletion Detection  see less
Clinical Genetic Test
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offered by
Mayo Clinic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000552905.3
INHERITED DISEASEHEMATOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2021-06-09
View version history
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Prognostic; ...
Conditions (2): Help
Hereditary non-spherocytic hemolytic anemia; Pyruvate kinase deficiency of red cells
Genes (1): Help
PKLR (1q22)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: A single PCR product is amplified and separated by gel electrophoresis for fragment size detection.; ...
Target population: Help
This test is appropriate for patients with low or relatively …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis; Guidance for management; Predictive risk information for patient and/or family members; ...
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Test short name: Help
PKLR Full Gene and Deletion
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
PKLRG
View other test codes
LOINC codes: Help
**LOINC codes notice
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Sarah Brunker, PhD, MS, MPH, Genetic Counselor
rstgchemepath@mayo.edu
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Please see Mayo Medical Laboratories Test Catalog entry for information on ordering requirements.
Order URL
Test service: Help
Result interpretation
    OrderCode: 37858
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis/Large Deletion Detection by PCR followed by fragment analysis.
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
A single PCR product is amplified and separated by gel electrophoresis for fragment size detection.
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Prognostic; Recurrence; Risk Assessment
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)
  • Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G. Pyruvate kinase deficiency: the genotype-phenotype association. Blood Rev. 2007;21(4):217-31. doi:10.1016/j.blre.2007.01.001. Epub 2007 Mar 13. PMID: 17360088.
  • Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol. 2015;90(9):825-30. doi:10.1002/ajh.24088. Epub 2015 Aug 14. PMID: 26087744.

Guidance for management
View citations (1)
  • Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol. 2015;90(9):825-30. doi:10.1002/ajh.24088. Epub 2015 Aug 14. PMID: 26087744.

Predictive risk information for patient and/or family members
View citations (1)
  • Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol. 2015;90(9):825-30. doi:10.1002/ajh.24088. Epub 2015 Aug 14. PMID: 26087744.

Reproductive decision-making
View citations (1)
  • Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol. 2015;90(9):825-30. doi:10.1002/ajh.24088. Epub 2015 Aug 14. PMID: 26087744.

Target population: Help
This test is appropriate for patients with low or relatively low levels of erythrocytic PK enzymatic activity.
View citations (1)
  • Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G. Pyruvate kinase deficiency: the genotype-phenotype association. Blood Rev. 2007;21(4):217-31. doi:10.1016/j.blre.2007.01.001. Epub 2007 Mar 13. PMID: 17360088.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
All detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Sample reports:
Sample Negative Report Help
Revised report requested by NCBI

Sample Positive Report Help
Revised report requested by NCBI
Recommended fields not provided:
Clinical validity, Is research allowed on the sample after clinical testing is complete?
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity: 100% sequence concordance among three serially diluted ACD whole blood DNA samples and three Coriell samples were observed for all samples within the DNA concentration range determined for this assay (5-250 ng/ul). Analytical specificity: Normal sequencing results and absence of spurious bands were observed for all amplicons (12 … View more
Assay limitations: Help
Reportable range: All coding exons of the PKLR gene (GenBank: NG_011677.1, GRCh37: hg19) including 30 base pairs of flanking intronic sequence, and 100bp of flanking sequence upstream of exon 1 will be sequenced. Deletion fragment range is intron 2/exon 3-11 including 3’ UTR of PKLR gene. Deletion size: >1.5kb can … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

Method used for proficiency testing: Help
Alternative Assessment

PT Provider: Help
No external PT is available at this time. Alternative Assessment

Description of PT method: Help
An internal blind/split sample will be tested twice a year.
VUS:
Software used to interpret novel variations Help
Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, gene-specific online databases, ISCA, UCSC Genome Browser

Laboratory's policy on reporting novel variations Help
All novel variants and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information
Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.