Genetic TestsSMA Mutation Analysis

• Test Name: SMA Mutation Analysis
• Test Code: 3098

• Spinal muscular atrophy-1 (OMIM #: 253300) || Gene: SMN1 (OMIM #: 600354)

• Spinal Muscular Atrophy Mutation Analysis
• SMN Gene Deletion Analysis
• SMA Exon 7 Deletion
• SMA Exon 8 Deletion

• Methodology: PCR-RFLP
• Performed: Everyday
• Reported: 2 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

• Neurogenetics