Lab Test : Spinal Muscular Atrophy DNA Test

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Alternate:Werdnig-Hoffman Disease; Kugelberg-Welander Disease
Department:Molecular Genetics Lab
Phone:(937) 641-3262
Available:Lab open Mon - Fri 7:30 AM - 4:00 PM. Specimens accepted daily, 24 hours. Specimens batched and test run as needed.
Turnaround:10 days
Volume:0.5 mL
Temperature:Room temperature for not more than 24 hours. Can be stored at 4 degrees C for 1 week.
Rejection:Will attempt to extract DNA and perform assay if hemolysis or clotting are present or if blood is in a preservative other than EDTA.
Normal:normal; presence of exons 7 and 8 of SMN1 detected
Uses:To detect the absence of exons 7 and 8 of the SMN1 gene associated with spinal muscular atrophy, a neuromuscular disorder caused by degeneration of the anterior horn cells in the spinal cord and sometimes in the brain stem nuclei resulting in muscle weakness and atrophy.
Limitations:This assay detects ONLY the presence or absence of exons 7 and 8 of the SMN1 gene.
Method:Polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP)

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