Disorders


 

Citrin Deficiency


 

GeneReviewOMIM

GeneLocusProtein
SLC25A137q21.3Calcium-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.

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