Disorders

Fanconi-Bickel Syndrome

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

OMIM

Gene	Locus	Protein
SLC2A2	3q26.2-q27	Solute carrier family 2, facilitated glucose transporter member 2

Laboratory	Test Method	Prenatal	Carrier *
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey	• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
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	• Sequence analysis of the entire coding region
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• 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
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of the entire coding region
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain	• 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.