
Test Name & Code:
• Test Name: Lafora Disease (NHLRC1 Gene Sequence Analysis)
• Test Code: 4617
• Test Code: 4617
Related Diseases & Genes:
Synonyms:
• MYOCLONIC EPILEPSY OF LAFORA
• LAFORA BODY DISEASE; LBD
• Epilepsy, progressive myoclonic 2B
• NHLRC1
• LAFORA BODY DISEASE; LBD
• Epilepsy, progressive myoclonic 2B
• NHLRC1
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 2-3 weeks
• Performed: Everyday
• Reported: 2-3 weeks
Specimen Details:
• 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
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Neurogenetics
