Disorders


 

Amish Infantile Epilepsy Syndrome


Synonym(s): GM3 Synthase Deficiency

 

OMIM

GeneLocusProtein
ST3GAL52p11.2Lactosylceramide alpha-2,3-sialyltransferase

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• 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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