Genetic TestsLafora Disease (NHLRC1 Gene Sequence Analysis)

• Test Name: Lafora Disease (NHLRC1 Gene Sequence Analysis)
• Test Code: 4617

• Epilepsy, progressive myoclonic 2B (Lafora)  (OMIM #: 254780) || Gene: NHLRC1 (OMIM #: 608072)

• MYOCLONIC EPILEPSY OF LAFORA
• LAFORA BODY DISEASE; LBD
• Epilepsy, progressive myoclonic 2B
• NHLRC1

• 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