Disorders


 

Bietti Crystalline Dystrophy


Synonym(s): Bietti Crystalline Corneoretinal Dystrophy, Bietti Crystalline Retinopathy

 

GeneReviewOMIM

GeneLocusProtein
CYP4V24q35.2Cytochrome P450 4V2

Laboratory Test Method Prenatal Carrier *
National Institutes of Health, Ocular Genetics Laboratory - Bethesda, MD, 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
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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