Disorders


 

Liver Failure, Acute Infantile


 

OMIM

GeneLocusProtein
TRMU22q13Mitochondrial tRNA-specific 2-thiouridylase 1

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain• Sequence analysis of the entire coding region

* 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.

Loading...