Disorders

Fructose 1,6 Bisphosphatase Deficiency

Gene	Locus	Protein
FBP1	9q22.3	Fructose-1

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Burc Molecular Genetics Laboratory - Istanbul, Turkey
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Duke University Health System, Glycogen Storage Disease Laboratory - Durham, NC, USA	• Enzyme assay
GeneDx - Gaithersburg, MD, USA
Intergen Genetics Centre - Ankara, Turkey
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Analyte

^* 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.