Disorders


 

UPK3A-Related Renal Adysplasia


Synonym(s): UPK3A-Related Hereditary Renal Aplasia, UPK3A-Related HRA, UPK3A-Related Renal Agenesis, UPK3A-Related Renal Aplasia

 

OMIM

GeneLocusProtein
UPK3A22q13.31Uroplakin-3a

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
  
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands• 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.

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