Disorders

AGRN-Related Congenital Myasthenic Syndrome

Synonym(s): AGRN-Related Familial Limb-Girdle Myasthenia Syndrome, Congenital Myasthenic Syndrome Type 1b

Gene	Locus	Protein
AGRN	1p36.33	Agrin

Laboratory	Test Method	Prenatal	Carrier *
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany	• Sequence analysis of select exons
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.