Disorders

Blau Syndrome

Gene	Locus	Protein
NOD2	16q12	Nucleotide-binding oligomerization domain-containing protein 2

Laboratory	Test Method	Prenatal	Carrier *
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA
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	• Mutation scanning of select exons
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA

^* 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.