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.
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.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81405

Components
Component Test Code* Component Chart Name LOINC
3002064 Specimen PKLR FGS 31208-2
3002065 PKLR FGS Interpretation 48029-3
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
Pyruvate Kinase Deficiency (PKLR) Sequencing