Disorders


 

Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis


Synonym(s): HUPRA Syndrome

 

OMIM

GeneLocusProtein
SARS219q13.2Serine--tRNA ligase, mitochondrial

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

* 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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