|Alternate:||Werdnig-Hoffman Disease; Kugelberg-Welander Disease|
|Department:||Molecular Genetics Lab|
|Available:||Lab open Mon - Fri 7:30 AM - 4:00 PM. Specimens accepted daily, 24 hours. Specimens batched and test run as needed.|
|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 mutations 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 SMN gene.|
|Method:||Polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP)|
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