Test Catalog

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Test ID: PKLRG    
Pyruvate Kinase Liver and Red Blood Cell (PKLR) Full Gene Sequencing and Large Deletion Detection

Useful For Suggests clinical disorders or settings where the test may be helpful

Aid in the diagnosis of pyruvate kinase (PK) deficiency

 

Ascertain a causative variant in the PKLR gene of patients with low or relatively low levels of erythrocytic PK enzymatic activity

 

Ascertain carrier status of family members of individuals diagnosed with PK deficiency for genetic counseling purposes

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis/Large Deletion Detection by PCR followed by fragment analysis

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

PKLR Full Gene and Deletion

Aliases Lists additional common names for a test, as an aid in searching

PK
Pyruvate Kinase (RBC)
Hemolytic anemia
Nonspherocytic hemolytic anemia