Disorders


 

Cone-Rod Dystrophy 5


Synonym(s): CORD5

 

OMIM

GeneLocusProtein
PITPNM317p13Membrane-associated phosphatidylinositol transfer protein 3

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA• 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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