Disorders


 

Fanconi-Bickel Syndrome


Synonym(s): Glycogen Storage Disease Type XI, Hepatic Glycogenesis with Fanconi Nephropathy, Hepatorenal Glycogenosis with Renal Fanconi Syndrome

 

OMIM

GeneLocusProtein
SLC2A23q26.2-q27Solute carrier family 2

Laboratory Test Method Prenatal Carrier *
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey  
Centogene AG, Rare Disease Company - Rostock, Germany  
Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders - Prague, Czech Republic  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain  
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA  

* 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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