Disorders


 

IQCB1-Related Leber Congenital Amaurosis


Synonym(s): IQCB1-Related LCA

 

OMIM

GeneLocusProtein
IQCB13q21.1IQ calmodulin-binding motif-containing protein 1

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
  
Ghent University Hospital, DNA Laboratory - Ghent, Belgium• 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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