Genetic TestsGLUD1 Gene Sequencing

• Test Name: GLUD1 Gene Sequencing
• Test Code: 4787

• Hyperinsulinism-hyperammonemia syndrome (OMIM #: 606762) || Gene: GLUD1 (OMIM #: 138130)

• GLUD
• GDH
• GLUTAMATE DEHYDROGENASE 1

• Methodology: Next Generation DNA Sequencing
• Performed: Everyday
• Reported: 4 weeks

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Multisystem Diseases