Disorders

IRF6-Related Disorders

Gene	Locus	Protein
IRF6	1q32.2-q32.3	Interferon regulatory factor 6

Laboratory	Test Method	Prenatal	Carrier *
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
CGC Genetics - Porto, Portugal
Cliniques universitaires Saint Luc, Center for Human Genetics - Brussels, Belgium	• Mutation scanning of the entire coding region
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Hpital Trousseau - Assistance Publique des Hpitaux de Paris, U.F. de Gntique Molculaire - Paris, France
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
University of Bonn, Institute of Human Genetics - Bonn, Germany

^* 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.