Disorders


 

Epileptic Encephalopathy, Early Infantile, 12


Synonym(s): EIEE12

 

OMIM

GeneLocusProtein
PLCB120p121-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-1

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
University of Chicago, Genetic Services Laboratory - Chicago, IL, 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.

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