Disorders


 

VPS33B-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome


Synonym(s): Arthrogryposis, Renal Dysfunction, and Cholestasis 1, ARCS1

 

OMIM

GeneLocusProtein
VPS33B15q26.1Vacuolar protein sorting-associated protein 33B

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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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