Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
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
Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis/Large Deletion Detection by PCR followed by fragment analysis