Genetic TestsLafora Disease (EPM2A Gene Sequence Analysis)

• Test Name: Lafora Disease (EPM2A Gene Sequence Analysis)
• Test Code: 4616

• “Epilepsy, progressive myoclonic 2A (Lafora)” (OMIM #: 254780) || Gene: EPM2A (OMIM #: 607566)

• MYOCLONIC EPILEPSY OF LAFORA
• LAFORA BODY DISEASE; LBD
• EPILEPSY, PROGRESSIVE MYOCLONIC 2A; EPM2A
• EPM2

• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 2-3 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

• Neurogenetics