Disorders

Unverricht-Lundborg Disease

Synonym(s): Epilepsy, Progressive Myoclonus 1, EPM1, Progressive Myoclonic Epilepsy 1, Progressive Myoclonus Epilepsy 1, Unverricht-Lundborg Myoclonus Epilepsy

GeneReview OMIM

Gene	Locus	Protein
CSTB	21q22.3	Cystatin-B

Laboratory	Test Method	Prenatal	Carrier *
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Targeted mutation analysis
CeGaT GmbH - Tuebingen, Germany
diagenos - Osnabrueck, Germany	• Targeted mutation analysis
HUSLAB, Laboratory of Genetics - Helsinki, Finland	• Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia	• Targeted mutation analysis
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Praxis fuer Humangenetik Wien - Vienna, Austria	• Targeted mutation analysis
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands	• Targeted mutation 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.