Disorders


 

DNAJC5-Related Neuronal Ceroid-Lipofuscinosis


Synonym(s): Autosomal Dominant Kufs Disease, Neuronal Ceroid Lipofuscinosis, Parry Type

 

OMIM

GeneLocusProtein
DNAJC520q13.33 

Laboratory Test Method Prenatal Carrier *
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA• Sequence analysis of the entire coding region
 
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - 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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