Disorders


 

Jalili Syndrome


Synonym(s): Cone-Rod Dystrophy and Amelogenesis Imperfecta

 

OMIM

GeneLocusProtein
CNNM42q11.2Metal transporter CNNM4

Laboratory Test Method Prenatal Carrier *
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• 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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