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Pyruvate Kinase Deficiency (PKLR) Sequencing
3002059
Ordering Recommendation

Confirm pyruvate kinase (PK) deficiency in individuals with abnormal PK enzyme activity and/or clinical findings. Assess carrier status for PK deficiency.

Mnemonic
PKLR FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
2-3 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (K2EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months 
Reference Interval
By report
Interpretive Data
Interpretive Data: Background information for Pyruvate Kinase Deficiency (PKLR) Sequencing:
Characteristics:
Red cell pyruvate kinase (PK) deficiency, although relatively rare, is the most common glycolytic defect resulting in congenital non-spherocytic hemolytic anemia. Clinical features of PK deficiency are highly variable, ranging from well compensated anemia to severe disease with lifelong transfusion dependency. Other clinical manifestations may include jaundice, gallstones, iron overload and potential for other complications.
Prevalence: Varies by ethnicity; 1 in 20,000 Caucasians, higher prevalence in Pennsylvania Amish and Romani.
Inheritance:
Autosomal recessive.
Cause: Pathogenic biallelic germline variants in
PKLR.
Clinical Sensitivity: 98 percent.
Methodology: B
idirectional sequencing of all coding regions, intron/exon boundaries, 5' untranslated region and deep intronic variants c.1269+43T>C and c.1269+44C>T (also known as IVS9+43T>C and IVS9+44C>T, respectively) of the PKLR gene.
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations or repeat element insertions. Deep intronic variants other than those targeted and large deletions/duplications will not be detected. Regulatory region variants outside of the 5' untranslated region will not be assessed.

Note
Hotline History
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Components
Component Test Code*Component Chart NameLOINC
3002064Specimen PKLR FGS
3002065PKLR FGS Interpretation
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Aliases