Disorders


 

GFPT1-Related Congenital Myasthenic Syndrome


 

OMIM

GeneLocusProtein
GFPT12p13Glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1

Laboratory Test Method Prenatal Carrier *
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication 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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