Disorders

Citrin Deficiency

Gene	Locus	Protein
SLC25A13	7q21.3	Calcium-binding mitochondrial carrier protein Aralar2

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Analyte
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Mutation scanning of select exons
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea

^* 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.