Disorders

Oral-Facial-Digital Syndrome Type I

Synonym(s): OFD1, Orofaciodigital Syndrome I

Gene	Locus	Protein
OFD1	Xp22	Oral-facial-digital syndrome 1 protein

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Hôpital d'Enfants, CHU, Centre de Génétique - Dijon, France	• Sequence analysis of the entire coding region • Linkage analysis • Deletion/duplication analysis
InVitae Corporation - San Francisco, CA, USA	• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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.