Disorders

Pyruvate Kinase Deficiency

Gene	Locus	Protein
PKLR	1q22	Pyruvate kinase isozymes R/L

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, General Laboratory - Salt Lake City, UT, USA	• Enzyme assay
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Mayo Clinic, Metabolic Hematology Laboratory - Rochester, MN, USA	• Enzyme assay
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.