Disorders


 

Beta-Propeller Protein-Associated Neurodegeneration


 

OMIM

GeneLocusProtein
WDR45Xp11.23WD repeat domain phosphoinositide-interacting protein 4

Laboratory Test Method Prenatal Carrier *
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA• Sequence analysis of the entire coding region
Oregon Health and Science University, NBIA Testing Center - Portland, OR, 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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