Genetic TestsFanconi-Bickel Syndrome (SLC2A2 Gene)

• Test Name: Fanconi-Bickel Syndrome (SLC2A2 Gene)
• Test Code: 2782

• Fanconi-Bickel syndrome (OMIM #: 227810) || Gene: SLC2A2 (OMIM #: 138160)

• Glycogen Storage Disease XI
• SLC2A2 Gene Mutations
• Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 2

Methodology: DNA Sequencing
Performed: Everyday
Reported: 2 weeks

Specimen Collection: Peripheral blood
Container: Tube with EDTA
Specimen Volume/Amount: 5-10 ml
Storage/Transport Condition: Refrigerated
Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Inborn Errors of Metabolism