Disorders

Facioscapulohumeral Muscular Dystrophy 2

Synonym(s): Facioscapulohumeral Muscular Dystrophy Type 1B, FSHD1B, FSHD2

Gene	Locus	Protein
SMCHD1	18p11.32	Structural maintenance of chromosomes flexible hinge domain-containing protein 1

Laboratory	Test Method	Prenatal	Carrier *
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region

^* 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.