Genetic TestsSURF1 Sequencing

• Test Name: SURF1 Sequencing
• Test Code: 3874

• “Leigh syndrome, due to COX deficiency” (OMIM #: 256000) || Gene: SURF1 (OMIM #: 185620)

• SURFEIT 1

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

• 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

• Dysmorphology
• Neurogenetics