Disorders


 

Blau Syndrome


 

OMIM

GeneLocusProtein
NOD216q12Nucleotide-binding oligomerization domain-containing protein 2

Laboratory Test Method Prenatal Carrier *
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA• Sequence analysis of the entire coding region
 
CHRU Montpellier, Laboratoire des maladies rares et Auto-Inflammatoires - Montpellier, France• Sequence analysis of select exons
• Mutation scanning of the entire coding region
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Mutation scanning of select exons
 
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.

Loading...