Disorders


 

Congenital Myasthenic Syndrome with Tubular Aggregates 2


 

OMIM

GeneLocusProtein
DPAGT111q23.3UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase

Laboratory Test Method Prenatal Carrier *
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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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