Disorders

FHL1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

Synonym(s): EDMD6, Emery-Dreifuss Muscular Dystrophy 6

Gene	Locus	Protein
FHL1	Xq26.3	Four and a half LIM domains protein 1

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA
Groupe Hospitalier Pitié Salpêtrière, Molecular and Cellular Cardiogenetics and Myogenetics Unit - Paris, France	• Linkage analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.