Disorders


 

Choroidal Dystrophy, Central Areolar 2


Synonym(s): CACD2, PRPH2-Related Progressive Macular Dystrophy

 

OMIM

GeneLocusProtein
PRPH26p21.2-cenPeripherin-2

Laboratory Test Method Prenatal Carrier *
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, 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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