Disorders

Blepharophimosis, Ptosis, and Epicanthus Inversus

Synonym(s): Blepharophimosis Syndrome, BPES

Gene	Locus	Protein
FOXL2	3q23	Forkhead box protein L2

Laboratory	Test Method	Prenatal	Carrier *
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Charit Unversitaetsmedizin Berlin, Institute of Medical Genetics and Human Genetics - Berlin, Germany
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Ghent University Hospital, DNA Laboratory - Ghent, Belgium
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
University Hospitals of Geneva - Genetic Medicine, Genetic Oncology - DiagMol - Geneva, Switzerland

^* 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.