Test Name & Code:
• Test Name: MERRF Syndrome (A8344G, T8356C, G8363A and G8361A) Analysis
• Test Code: 4627
• Test Code: 4627
Related Diseases & Genes:
• Myoclonic Epilepsy Associated with Ragged-Red Fibers (MERRF) (OMIM #: 545000) || Gene: MTTK (OMIM #: 590060)
Synonyms:
• “MTTK Gene A8344G, T8356C, G8363A and G8361A Mutations”
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 3 weeks
• Performed: Everyday
• Reported: 3 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Neurogenetics
