Disorders


 

Unverricht-Lundborg Disease


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

 

GeneReviewOMIM

GeneLocusProtein
CSTB21q22.3Cystatin-B

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

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